Canonical Allele Identifier: CA277117
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 92360
dbSNP Id: rs145138923
gnomAD v2: 7-65546812-G-A
gnomAD v3: 7-66081825-G-A
gnomAD v4: 7-66081825-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66081825G>A , CM000669.2:g.66081825G>A GRCh38
NC_000007.13:g.65546812G>A , CM000669.1:g.65546812G>A GRCh37
NC_000007.12:g.65184247G>A NCBI36
NG_009288.1:g.11037G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.35G>A MANE Select ENSP00000307188.9:p.Arg12Gln
ENST00000362000.10:c.13-543G>A ENSP00000354710.6:n.13-543G>A
ENST00000380839.9:c.35G>A ENSP00000370219.4:p.Arg12Gln
ENST00000395331.4:c.35G>A ENSP00000378740.3:p.Arg12Gln
ENST00000395332.8:c.35G>A ENSP00000378741.3:p.Arg12Gln
ENST00000671817.1:c.35G>A ENSP00000500462.1:p.Arg12Gln
ENST00000672498.1:c.35G>A ENSP00000500227.1:p.Arg12Gln
ENST00000672586.1:n.113-543G>A
ENST00000672676.1:n.205G>A
ENST00000673350.1:n.283G>A
ENST00000673518.1:c.35G>A ENSP00000499889.1:p.Arg12Gln
ENST00000304874.13:c.35G>A ENSP00000307188.9:p.Arg12Gln
ENST00000362000.9:c.13-543G>A ENSP00000354710.5:n.13-543G>A
ENST00000380839.8:c.35G>A ENSP00000370219.4:p.Arg12Gln
ENST00000395331.3:c.35G>A ENSP00000378740.3:p.Arg12Gln
ENST00000395332.7:c.35G>A ENSP00000378741.3:p.Arg12Gln
ENST00000487982.5:n.101G>A
ENST00000496336.1:n.276G>A
NM_000048.3:c.35G>A NP_000039.2:p.Arg12Gln
NM_001024943.1:c.35G>A NP_001020114.1:p.Arg12Gln
NM_001024944.1:c.35G>A NP_001020115.1:p.Arg12Gln
NM_001024946.1:c.35G>A NP_001020117.1:p.Arg12Gln
NM_000048.4:c.35G>A MANE Select NP_000039.2:p.Arg12Gln
NM_001024943.2:c.35G>A NP_001020114.1:p.Arg12Gln
NM_001024944.2:c.35G>A NP_001020115.1:p.Arg12Gln
NM_001024946.2:c.35G>A NP_001020117.1:p.Arg12Gln