Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: ARSA ENSG00000100299

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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

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000216124.5	ARSA-001	2050	509aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14100	P15289	NM_000487.5	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,
ENST00000547307.1	ARSA-201	2053	507aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		P15289	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000547805.1	ARSA-202	1948	507aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		P15289	NM_001085425.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000395621.3	ARSA-005	1918	509aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14100	P15289	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000356098.5	ARSA-004	1895	509aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14100	P15289	NM_001085426.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000395619.3	ARSA-003	1824	509aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14100	P15289	NM_001085427.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000453344.2	ARSA-002	1650	423aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46736	P15289	NM_001085428.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000608497.1	ARSA-007	576	69aa	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000610191.1	ARSA-008	573	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000551731.1	ARSA-006	1431	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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