Canonical Allele Identifier: CA339980
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 2401
ClinVar RCV Id: RCV000002502
dbSNP Id: rs28940286
gnomAD v2: 7-65557553-C-T
gnomAD v3: 7-66092566-C-T
gnomAD v4: 7-66092566-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092566C>T , CM000669.2:g.66092566C>T GRCh38
NC_000007.13:g.65557553C>T , CM000669.1:g.65557553C>T GRCh37
NC_000007.12:g.65194988C>T NCBI36
NG_009288.1:g.21778C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.1153C>T MANE Select ENSP00000307188.9:p.Arg385Cys
ENST00000362000.10:c.958C>T ENSP00000354710.6:p.Arg320Cys
ENST00000380839.9:c.1075C>T ENSP00000370219.4:p.Arg359Cys
ENST00000395331.4:c.1093C>T ENSP00000378740.3:p.Arg365Cys
ENST00000395332.8:c.1153C>T ENSP00000378741.3:p.Arg385Cys
ENST00000488343.2:c.148-338C>T ENSP00000500864.1:n.148-338C>T
ENST00000672498.1:c.*452C>T ENSP00000500227.1:n.*452C>T
ENST00000672586.1:n.1912C>T
ENST00000672676.1:n.2177C>T
ENST00000673149.1:n.965C>T
ENST00000673350.1:n.3270C>T
ENST00000673518.1:c.1075C>T ENSP00000499889.1:p.Arg359Cys
ENST00000304874.13:c.1153C>T ENSP00000307188.9:p.Arg385Cys
ENST00000380839.8:c.1075C>T ENSP00000370219.4:p.Arg359Cys
ENST00000395331.3:c.1093C>T ENSP00000378740.3:p.Arg365Cys
ENST00000395332.7:c.1153C>T ENSP00000378741.3:p.Arg385Cys
ENST00000450043.2:c.466C>T ENSP00000396527.2:p.Arg156Cys
ENST00000464970.1:n.356C>T
ENST00000488343.1:n.148-338C>T
ENST00000493708.5:n.634C>T
NM_000048.3:c.1153C>T NP_000039.2:p.Arg385Cys
NM_001024943.1:c.1153C>T NP_001020114.1:p.Arg385Cys
NM_001024944.1:c.1093C>T NP_001020115.1:p.Arg365Cys
NM_001024946.1:c.1075C>T NP_001020117.1:p.Arg359Cys
NM_000048.4:c.1153C>T MANE Select NP_000039.2:p.Arg385Cys
NM_001024943.2:c.1153C>T NP_001020114.1:p.Arg385Cys
NM_001024944.2:c.1093C>T NP_001020115.1:p.Arg365Cys
NM_001024946.2:c.1075C>T NP_001020117.1:p.Arg359Cys