Description
arylsulfatase A [Source:HGNC Symbol;Acc:713]
Gene Synonyms
MLD
Location
Chromosome 22: 51,061,182-51,066,607 reverse strand.
GRCh37:CM000684.1
About this gene
This gene has 10 transcripts (splice variants), 10 paralogues and is associated with 8 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000547307.1 | ARSA-201 | 2053 | 507aa | ENSP00000448440.1 | Protein coding | P15289 | - | GENCODE basic, | |
ENST00000216124.5 | ARSA-001 | 2050 | 509aa | ENSP00000216124.5 | Protein coding | CCDS14100 | P15289 | NM_000487.5 | GENCODE basic, |
ENST00000547805.1 | ARSA-202 | 1948 | 507aa | ENSP00000448932.1 | Protein coding | P15289 | NM_001085425.2 | GENCODE basic, | |
ENST00000395621.3 | ARSA-005 | 1918 | 509aa | ENSP00000378983.3 | Protein coding | CCDS14100 | P15289 | - | GENCODE basic, |
ENST00000356098.5 | ARSA-004 | 1895 | 509aa | ENSP00000348406.5 | Protein coding | CCDS14100 | P15289 | NM_001085426.2 | GENCODE basic, |
ENST00000395619.3 | ARSA-003 | 1824 | 509aa | ENSP00000378981.3 | Protein coding | CCDS14100 | P15289 | NM_001085427.2 | GENCODE basic, |
ENST00000453344.2 | ARSA-002 | 1650 | 423aa | ENSP00000412542.2 | Protein coding | CCDS46736 | P15289 | NM_001085428.2 | GENCODE basic, |
ENST00000608497.1 | ARSA-007 | 576 | 69aa | ENSP00000477013.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000610191.1 | ARSA-008 | 573 | No protein | - | Processed transcript | - | - | - | |
ENST00000551731.1 | ARSA-006 | 1431 | No protein | - | Retained intron | - | - | - |