Canonical Allele Identifier: CA4276864
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 557253
ClinVar RCV Id: RCV000673369
dbSNP Id: rs752100894
gnomAD v2: 7-65547407-A-G
gnomAD v4: 7-66082420-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66082420A>G , CM000669.2:g.66082420A>G GRCh38
NC_000007.13:g.65547407A>G , CM000669.1:g.65547407A>G GRCh37
NC_000007.12:g.65184842A>G NCBI36
NG_009288.1:g.11632A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.260A>G MANE Select ENSP00000307188.9:p.Asp87Gly
ENST00000362000.10:c.65A>G ENSP00000354710.6:p.Asp22Gly
ENST00000380839.9:c.260A>G ENSP00000370219.4:p.Asp87Gly
ENST00000395331.4:c.260A>G ENSP00000378740.3:p.Asp87Gly
ENST00000395332.8:c.260A>G ENSP00000378741.3:p.Asp87Gly
ENST00000671817.1:c.260A>G ENSP00000500462.1:p.Asp87Gly
ENST00000672498.1:c.260A>G ENSP00000500227.1:p.Asp87Gly
ENST00000672586.1:n.165A>G
ENST00000672676.1:n.430A>G
ENST00000673350.1:n.508A>G
ENST00000673518.1:c.260A>G ENSP00000499889.1:p.Asp87Gly
ENST00000673594.1:n.109A>G
ENST00000304874.13:c.260A>G ENSP00000307188.9:p.Asp87Gly
ENST00000362000.9:c.65A>G ENSP00000354710.5:p.Asp22Gly
ENST00000380839.8:c.260A>G ENSP00000370219.4:p.Asp87Gly
ENST00000395331.3:c.260A>G ENSP00000378740.3:p.Asp87Gly
ENST00000395332.7:c.260A>G ENSP00000378741.3:p.Asp87Gly
ENST00000487982.5:n.326A>G
ENST00000496336.1:n.501A>G
NM_000048.3:c.260A>G NP_000039.2:p.Asp87Gly
NM_001024943.1:c.260A>G NP_001020114.1:p.Asp87Gly
NM_001024944.1:c.260A>G NP_001020115.1:p.Asp87Gly
NM_001024946.1:c.260A>G NP_001020117.1:p.Asp87Gly
NM_000048.4:c.260A>G MANE Select NP_000039.2:p.Asp87Gly
NM_001024943.2:c.260A>G NP_001020114.1:p.Asp87Gly
NM_001024944.2:c.260A>G NP_001020115.1:p.Asp87Gly
NM_001024946.2:c.260A>G NP_001020117.1:p.Asp87Gly