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 | 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 | - | - | - |