Description
galactosylceramidase [Source:HGNC Symbol;Acc:4115]
Location
Chromosome 14: 88,407,739-88,459,514 reverse strand.
About this transcript
This transcript has 16 exons, is annotated with 10 domains and features, is associated with 22912 variant alleles and maps to 354 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000544807.2 | GALC-007 | 2528 | 589aa | ENSP00000437513.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V255 P54803 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000393568.4 | GALC-005 | 2054 | 662aa | ENSP00000377198.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55936 | E7EPA4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |