Description
galactosylceramidase [Source:HGNC Symbol;Acc:4115]
Location
Chromosome 14: 88,400,067-88,459,182 reverse strand.
About this transcript
This transcript has 17 exons, is annotated with 15 domains and features, is associated with 25926 variant alleles and maps to 542 oligo probes.
Gene
This transcript is a product of gene ENSG00000054983.12 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000261304.2 | GALC-001 | 3883 | 685aa | ENSP00000261304.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9878 | P54803 | NM_001201401.1 | 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, |
| ENST00000393569.2 | GALC-002 | 2547 | 659aa | ENSP00000377199.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55937 | - | NM_001201402.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000544807.2 | GALC-007 | 2528 | 589aa | ENSP00000437513.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V255 P54803 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000393568.4 | GALC-005 | 2054 | 662aa | ENSP00000377198.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55936 | E7EPA4 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000555000.1 | GALC-008 | 2067 | 434aa | ENSP00000450472.1 | Nonsense mediated decay | G3V255 | - | - | |
| ENST00000557316.1 | GALC-006 | 1874 | 211aa | ENSP00000452314.1 | Nonsense mediated decay | G3V5E8 | - | - | |
| ENST00000554372.1 | GALC-009 | 717 | 112aa | ENSP00000451884.1 | Nonsense mediated decay | G3V4M2 | - | - | |
| ENST00000556879.1 | GALC-010 | 595 | 62aa | ENSP00000452208.1 | Nonsense mediated decay | H0YJV6 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000555179.1 | GALC-014 | 554 | 72aa | ENSP00000451480.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000554916.1 | GALC-011 | 631 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000556261.1 | GALC-012 | 567 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000557520.1 | GALC-016 | 408 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000474294.2 | GALC-003 | 1263 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000477716.3 | GALC-013 | 605 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000555956.1 | GALC-015 | 525 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |

