Canonical Allele Identifier: CA4277330

Gene: ASL

Linked Data

• ClinVar Variation Id: 552287
• ClinVar RCV Id: RCV000667516
• dbSNP Id: rs746120802
• ExAC: 7:65557554 G / A
• gnomAD v2: 7-65557554-G-A
• gnomAD v4: 7-66092567-G-A
• MyVariant Identifiers: chr7:g.65557554G>A (hg19) ; chr7:g.66092567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092567G>A , CM000669.2:g.66092567G>A	GRCh38
NC_000007.13:g.65557554G>A , CM000669.1:g.65557554G>A	GRCh37
NC_000007.12:g.65194989G>A	NCBI36
NG_009288.1:g.21779G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1154G>A MANE Select	ENSP00000307188.9:p.Arg385His
ENST00000362000.10:c.959G>A	ENSP00000354710.6:p.Arg320His
ENST00000380839.9:c.1076G>A	ENSP00000370219.4:p.Arg359His
ENST00000395331.4:c.1094G>A	ENSP00000378740.3:p.Arg365His
ENST00000395332.8:c.1154G>A	ENSP00000378741.3:p.Arg385His
ENST00000488343.2:c.148-337G>A	ENSP00000500864.1:n.148-337G>A
ENST00000672498.1:c.*453G>A	ENSP00000500227.1:n.*453G>A
ENST00000672586.1:n.1913G>A
ENST00000672676.1:n.2178G>A
ENST00000673149.1:n.966G>A
ENST00000673350.1:n.3271G>A
ENST00000673518.1:c.1076G>A	ENSP00000499889.1:p.Arg359His
ENST00000304874.13:c.1154G>A	ENSP00000307188.9:p.Arg385His
ENST00000380839.8:c.1076G>A	ENSP00000370219.4:p.Arg359His
ENST00000395331.3:c.1094G>A	ENSP00000378740.3:p.Arg365His
ENST00000395332.7:c.1154G>A	ENSP00000378741.3:p.Arg385His
ENST00000450043.2:c.467G>A	ENSP00000396527.2:p.Arg156His
ENST00000464970.1:n.357G>A
ENST00000488343.1:n.148-337G>A
ENST00000493708.5:n.635G>A
NM_000048.3:c.1154G>A	NP_000039.2:p.Arg385His
NM_001024943.1:c.1154G>A	NP_001020114.1:p.Arg385His
NM_001024944.1:c.1094G>A	NP_001020115.1:p.Arg365His
NM_001024946.1:c.1076G>A	NP_001020117.1:p.Arg359His
NM_000048.4:c.1154G>A MANE Select	NP_000039.2:p.Arg385His
NM_001024943.2:c.1154G>A	NP_001020114.1:p.Arg385His
NM_001024944.2:c.1094G>A	NP_001020115.1:p.Arg365His
NM_001024946.2:c.1076G>A	NP_001020117.1:p.Arg359His