Description
aminomethyltransferase [Source:HGNC Symbol;Acc:473]
Gene Synonyms
GCE, GCST, GCVT, NKH
Location
Chromosome 3: 49,454,211-49,460,186 reverse strand.
GRCh37:CM000665.1
About this gene
This gene has 23 transcripts (splice variants) and is associated with 6 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000273588.3 | AMT-003 | 2276 | 403aa | ENSP00000273588.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2797 | B3KTU4 B4DGG9 P48728 | NM_000481.3 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000538581.1 | AMT-202 | 2033 | 347aa | ENSP00000443200.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54583 | B4DGG9 C9JXJ4 P48728 | NM_001164711.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000395338.2 | AMT-201 | 1955 | 386aa | ENSP00000378747.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54585 | P48728 | NM_001164712.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000458307.2 | AMT-006 | 1860 | 359aa | ENSP00000415619.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54584 | P48728 | NM_001164710.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000427987.1 | AMT-005 | 1719 | 384aa | ENSP00000403821.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000546031.1 | AMT-203 | 1123 | 306aa | ENSP00000440672.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DGG9 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000430521.1 | AMT-013 | 811 | 262aa | ENSP00000388068.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JXJ4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000399379.2 | AMT-008 | 1123 | 39aa | ENSP00000399943.1 | Nonsense mediated decay | F8WF62 | - | - | |
| ENST00000476226.1 | AMT-002 | 2038 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000480957.1 | AMT-018 | 850 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000487589.1 | AMT-015 | 780 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000485108.1 | AMT-017 | 592 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000493046.1 | AMT-016 | 581 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000462048.1 | AMT-020 | 529 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000465925.1 | AMT-004 | 3272 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000476127.1 | AMT-011 | 1111 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000478594.1 | AMT-009 | 1052 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000461210.1 | AMT-014 | 850 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000495436.1 | AMT-007 | 843 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000498571.1 | AMT-021 | 619 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000491800.2 | AMT-010 | 462 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000476828.1 | AMT-019 | 461 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000473163.1 | AMT-012 | 440 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
