Description
hexosaminidase A (alpha polypeptide) [Source:HGNC Symbol;Acc:4878]
Gene Synonyms
TSD
Location
Chromosome 15: 72,635,775-72,668,817 reverse strand.
About this transcript
This transcript has 14 exons, is annotated with 19 domains and features, is associated with 14377 variant alleles and maps to 580 oligo probes.
Gene
This transcript is a product of gene ENSG00000213614.5 Show transcript tableHide transcript table
| 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000566304.1 | HEXA-012 | 1795 | 540aa | ENSP00000455114.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3XL83 H3BP20 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000567159.1 | HEXA-016 | 1582 | 509aa | ENSP00000456489.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3XL83 H3BS10 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000429918.2 | HEXA-201 | 1397 | 301aa | ENSP00000416187.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PGL4 G3XL83 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000457859.2 | HEXA-202 | 1383 | 168aa | ENSP00000398026.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DKE7 G3XL83 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |