Canonical Allele Identifier: CA4276982

Gene: ASL

Linked Data

• dbSNP Id: rs767862685
• ExAC: 7:65551633 A / G
• gnomAD v2: 7-65551633-A-G
• gnomAD v4: 7-66086646-A-G
• MyVariant Identifiers: chr7:g.65551633A>G (hg19) ; chr7:g.66086646A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086646A>G , CM000669.2:g.66086646A>G	GRCh38
NC_000007.13:g.65551633A>G , CM000669.1:g.65551633A>G	GRCh37
NC_000007.12:g.65189068A>G	NCBI36
NG_009288.1:g.15858A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.508A>G MANE Select	ENSP00000307188.9:p.Ser170Gly
ENST00000362000.10:c.313A>G	ENSP00000354710.6:p.Ser105Gly
ENST00000380839.9:c.508A>G	ENSP00000370219.4:p.Ser170Gly
ENST00000395331.4:c.508A>G	ENSP00000378740.3:p.Ser170Gly
ENST00000395332.8:c.508A>G	ENSP00000378741.3:p.Ser170Gly
ENST00000671817.1:c.508A>G	ENSP00000500462.1:p.Ser170Gly
ENST00000672498.1:c.447-1083A>G	ENSP00000500227.1:n.447-1083A>G
ENST00000672586.1:n.413A>G
ENST00000672676.1:n.678A>G
ENST00000673149.1:n.320A>G
ENST00000673350.1:n.756A>G
ENST00000673518.1:c.508A>G	ENSP00000499889.1:p.Ser170Gly
ENST00000673594.1:n.357A>G
ENST00000304874.13:c.508A>G	ENSP00000307188.9:p.Ser170Gly
ENST00000362000.9:c.313A>G	ENSP00000354710.5:p.Ser105Gly
ENST00000380839.8:c.508A>G	ENSP00000370219.4:p.Ser170Gly
ENST00000395331.3:c.508A>G	ENSP00000378740.3:p.Ser170Gly
ENST00000395332.7:c.508A>G	ENSP00000378741.3:p.Ser170Gly
ENST00000487982.5:n.574A>G
NM_000048.3:c.508A>G	NP_000039.2:p.Ser170Gly
NM_001024943.1:c.508A>G	NP_001020114.1:p.Ser170Gly
NM_001024944.1:c.508A>G	NP_001020115.1:p.Ser170Gly
NM_001024946.1:c.508A>G	NP_001020117.1:p.Ser170Gly
NM_000048.4:c.508A>G MANE Select	NP_000039.2:p.Ser170Gly
NM_001024943.2:c.508A>G	NP_001020114.1:p.Ser170Gly
NM_001024944.2:c.508A>G	NP_001020115.1:p.Ser170Gly
NM_001024946.2:c.508A>G	NP_001020117.1:p.Ser170Gly