Canonical Allele Identifier: CA312323
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 203613
ClinVar RCV Id: RCV000454306
dbSNP Id: rs751590073
ExAC: 7:65551751 G / A
gnomAD v2: 7-65551751-G-A
gnomAD v3: 7-66086764-G-A
gnomAD v4: 7-66086764-G-A
MyVariant Identifiers: chr7:g.65551751G>A (hg19) chr7:g.66086764G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66086764G>A , CM000669.2:g.66086764G>A GRCh38
NC_000007.13:g.65551751G>A , CM000669.1:g.65551751G>A GRCh37
NC_000007.12:g.65189186G>A NCBI36
NG_009288.1:g.15976G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.545G>A MANE Select ENSP00000307188.9:p.Arg182Gln
ENST00000362000.10:c.350G>A ENSP00000354710.6:p.Arg117Gln
ENST00000380839.9:c.524+102G>A ENSP00000370219.4:n.524+102G>A
ENST00000395331.4:c.545G>A ENSP00000378740.3:p.Arg182Gln
ENST00000395332.8:c.545G>A ENSP00000378741.3:p.Arg182Gln
ENST00000671817.1:c.524+102G>A ENSP00000500462.1:n.524+102G>A
ENST00000672498.1:c.447-965G>A ENSP00000500227.1:n.447-965G>A
ENST00000672586.1:n.450G>A
ENST00000672676.1:n.715G>A
ENST00000673149.1:n.357G>A
ENST00000673350.1:n.793G>A
ENST00000673518.1:c.524+102G>A ENSP00000499889.1:n.524+102G>A
ENST00000673594.1:n.394G>A
ENST00000304874.13:c.545G>A ENSP00000307188.9:p.Arg182Gln
ENST00000362000.9:c.350G>A ENSP00000354710.5:p.Arg117Gln
ENST00000380839.8:c.524+102G>A ENSP00000370219.4:n.524+102G>A
ENST00000395331.3:c.545G>A ENSP00000378740.3:p.Arg182Gln
ENST00000395332.7:c.545G>A ENSP00000378741.3:p.Arg182Gln
ENST00000487982.5:n.611G>A
NM_000048.3:c.545G>A NP_000039.2:p.Arg182Gln
NM_001024943.1:c.545G>A NP_001020114.1:p.Arg182Gln
NM_001024944.1:c.545G>A NP_001020115.1:p.Arg182Gln
NM_001024946.1:c.524+102G>A NP_001020117.1:n.524+102G>A
NM_000048.4:c.545G>A MANE Select NP_000039.2:p.Arg182Gln
NM_001024943.2:c.545G>A NP_001020114.1:p.Arg182Gln
NM_001024944.2:c.545G>A NP_001020115.1:p.Arg182Gln
NM_001024946.2:c.524+102G>A NP_001020117.1:n.524+102G>A
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