Description
hexosaminidase A (alpha polypeptide) [Source:HGNC Symbol;Acc:4878]
Gene Synonyms
TSD
Location
Chromosome 15: 72,635,775-72,668,817 reverse strand.
GRCh37:CM000677.1
About this gene
This gene has 18 transcripts (splice variants), 1 paralogue and is associated with 7 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000268097.5 | HEXA-001 | 2737 | 529aa | ENSP00000268097.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10243 | G3XL83 H3BS10 P06865 | NM_000520.4 | 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, |
| ENST00000566304.1 | HEXA-012 | 1795 | 540aa | ENSP00000455114.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3XL83 H3BP20 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000567159.1 | HEXA-016 | 1582 | 509aa | ENSP00000456489.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3XL83 H3BS10 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000429918.2 | HEXA-201 | 1397 | 301aa | ENSP00000416187.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PGL4 G3XL83 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000457859.2 | HEXA-202 | 1383 | 168aa | ENSP00000398026.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DKE7 G3XL83 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000567411.1 | HEXA-003 | 1743 | 143aa | ENSP00000455545.1 | Nonsense mediated decay | H3BQ04 | - | - | |
| ENST00000566672.1 | HEXA-004 | 1397 | 143aa | ENSP00000457037.1 | Nonsense mediated decay | H3BT62 | - | - | |
| ENST00000567027.1 | HEXA-005 | 1353 | 318aa | ENSP00000457521.1 | Nonsense mediated decay | B4DKE7 G3XL83 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000569410.1 | HEXA-011 | 1351 | 373aa | ENSP00000457125.1 | Nonsense mediated decay | G3XL83 H3BTD4 | - | - | |
| ENST00000563762.1 | HEXA-002 | 1174 | 88aa | ENSP00000456346.1 | Nonsense mediated decay | H3BRP6 | - | - | |
| ENST00000568260.1 | HEXA-014 | 674 | 128aa | ENSP00000458128.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000567213.1 | HEXA-007 | 609 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000569509.1 | HEXA-006 | 590 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000568777.1 | HEXA-015 | 6909 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000565873.1 | HEXA-009 | 721 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000564677.1 | HEXA-008 | 572 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000563908.1 | HEXA-013 | 524 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000569116.1 | HEXA-010 | 449 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
