Canonical Allele Identifier: CA145657

Gene: ASL

Linked Data

• ClinVar Variation Id: 92363
• ClinVar RCV Id: RCV000078013 ; RCV000634857 ; RCV001535399
• dbSNP Id: rs115468878
• ExAC: 7:65551782 G / A
• gnomAD v2: 7-65551782-G-A
• gnomAD v3: 7-66086795-G-A
• gnomAD v4: 7-66086795-G-A
• MyVariant Identifiers: chr7:g.65551782G>A (hg19) ; chr7:g.66086795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086795G>A , CM000669.2:g.66086795G>A	GRCh38
NC_000007.13:g.65551782G>A , CM000669.1:g.65551782G>A	GRCh37
NC_000007.12:g.65189217G>A	NCBI36
NG_009288.1:g.16007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.576G>A MANE Select	ENSP00000307188.9:p.Lys192=
ENST00000362000.10:c.381G>A	ENSP00000354710.6:p.Lys127=
ENST00000380839.9:c.524+133G>A	ENSP00000370219.4:n.524+133G>A
ENST00000395331.4:c.576G>A	ENSP00000378740.3:p.Lys192=
ENST00000395332.8:c.576G>A	ENSP00000378741.3:p.Lys192=
ENST00000671817.1:c.524+133G>A	ENSP00000500462.1:n.524+133G>A
ENST00000672498.1:c.447-934G>A	ENSP00000500227.1:n.447-934G>A
ENST00000672586.1:n.481G>A
ENST00000672676.1:n.746G>A
ENST00000673149.1:n.388G>A
ENST00000673350.1:n.824G>A
ENST00000673518.1:c.524+133G>A	ENSP00000499889.1:n.524+133G>A
ENST00000673594.1:n.425G>A
ENST00000304874.13:c.576G>A	ENSP00000307188.9:p.Lys192=
ENST00000362000.9:c.381G>A	ENSP00000354710.5:p.Lys127=
ENST00000380839.8:c.524+133G>A	ENSP00000370219.4:n.524+133G>A
ENST00000395331.3:c.576G>A	ENSP00000378740.3:p.Lys192=
ENST00000395332.7:c.576G>A	ENSP00000378741.3:p.Lys192=
ENST00000487982.5:n.642G>A
NM_000048.3:c.576G>A	NP_000039.2:p.Lys192=
NM_001024943.1:c.576G>A	NP_001020114.1:p.Lys192=
NM_001024944.1:c.576G>A	NP_001020115.1:p.Lys192=
NM_001024946.1:c.524+133G>A	NP_001020117.1:n.524+133G>A
NM_000048.4:c.576G>A MANE Select	NP_000039.2:p.Lys192=
NM_001024943.2:c.576G>A	NP_001020114.1:p.Lys192=
NM_001024944.2:c.576G>A	NP_001020115.1:p.Lys192=
NM_001024946.2:c.524+133G>A	NP_001020117.1:n.524+133G>A