Canonical Allele Identifier: CA357217
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 224976
ClinVar RCV Id: RCV000210606
dbSNP Id: rs869312991
gnomAD v4: 7-66088850-C-A
MyVariant Identifiers: chr7:g.65553837C>A (hg19) chr7:g.66088850C>A (hg38)
PubMed: PMID:12384776
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66088850C>A , CM000669.2:g.66088850C>A GRCh38
NC_000007.13:g.65553837C>A , CM000669.1:g.65553837C>A GRCh37
NC_000007.12:g.65191272C>A NCBI36
NG_009288.1:g.18062C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.762C>A MANE Select ENSP00000307188.9:p.Ser254Arg
ENST00000362000.10:c.567C>A ENSP00000354710.6:p.Ser189Arg
ENST00000380839.9:c.684C>A ENSP00000370219.4:p.Ser228Arg
ENST00000395331.4:c.762C>A ENSP00000378740.3:p.Ser254Arg
ENST00000395332.8:c.762C>A ENSP00000378741.3:p.Ser254Arg
ENST00000671817.1:c.684C>A ENSP00000500462.1:p.Ser228Arg
ENST00000672498.1:c.*61C>A ENSP00000500227.1:n.*61C>A
ENST00000672586.1:n.1521C>A
ENST00000672676.1:n.1786C>A
ENST00000673149.1:n.574C>A
ENST00000673350.1:n.2879C>A
ENST00000673518.1:c.684C>A ENSP00000499889.1:p.Ser228Arg
ENST00000304874.13:c.762C>A ENSP00000307188.9:p.Ser254Arg
ENST00000362000.9:c.567C>A ENSP00000354710.5:p.Ser189Arg
ENST00000380839.8:c.684C>A ENSP00000370219.4:p.Ser228Arg
ENST00000395331.3:c.762C>A ENSP00000378740.3:p.Ser254Arg
ENST00000395332.7:c.762C>A ENSP00000378741.3:p.Ser254Arg
ENST00000450043.2:c.75C>A ENSP00000396527.2:p.Ser25Arg
ENST00000493708.5:n.143C>A
NM_000048.3:c.762C>A NP_000039.2:p.Ser254Arg
NM_001024943.1:c.762C>A NP_001020114.1:p.Ser254Arg
NM_001024944.1:c.762C>A NP_001020115.1:p.Ser254Arg
NM_001024946.1:c.684C>A NP_001020117.1:p.Ser228Arg
NM_000048.4:c.762C>A MANE Select NP_000039.2:p.Ser254Arg
NM_001024943.2:c.762C>A NP_001020114.1:p.Ser254Arg
NM_001024944.2:c.762C>A NP_001020115.1:p.Ser254Arg
NM_001024946.2:c.684C>A NP_001020117.1:p.Ser228Arg
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