Canonical Allele Identifier: CA220290
Gene: ASL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92359
ClinVar RCV Id: RCV000178026
dbSNP Id: rs374304304

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66082440C>T , CM000669.2:g.66082440C>T GRCh38
NC_000007.13:g.65547427C>T , CM000669.1:g.65547427C>T GRCh37
NC_000007.12:g.65184862C>T NCBI36
NG_009288.1:g.11652C>T

Transcript Alleles

HGVS Amino-acid change
NM_000048.3:c.280C>T VV NP_000039.2:p.Arg94Cys
NM_001024943.1:c.280C>T VV NP_001020114.1:p.Arg94Cys
NM_001024944.1:c.280C>T VV NP_001020115.1:p.Arg94Cys
NM_001024946.1:c.280C>T VV NP_001020117.1:p.Arg94Cys
ENST00000304874.13:c.280C>T ENSP00000307188.9:p.Arg94Cys
ENST00000362000.9:c.85C>T ENSP00000354710.5:p.Arg29Cys
ENST00000380839.8:c.280C>T ENSP00000370219.4:p.Arg94Cys
ENST00000395331.3:c.280C>T ENSP00000378740.3:p.Arg94Cys
ENST00000395332.7:c.280C>T ENSP00000378741.3:p.Arg94Cys
ENST00000487982.5:n.346C>T
ENST00000496336.1:n.521C>T