Canonical Allele Identifier: CA312329

Gene: ASL

Linked Data

• ClinVar Variation Id: 2503913
• ClinVar RCV Id: RCV003230904
• dbSNP Id: rs769506424
• ExAC: 7:65554269 G / A
• gnomAD v2: 7-65554269-G-A
• gnomAD v3: 7-66089282-G-A
• gnomAD v4: 7-66089282-G-A
• MyVariant Identifiers: chr7:g.65554269G>A (hg19) ; chr7:g.66089282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089282G>A , CM000669.2:g.66089282G>A	GRCh38
NC_000007.13:g.65554269G>A , CM000669.1:g.65554269G>A	GRCh37
NC_000007.12:g.65191704G>A	NCBI36
NG_009288.1:g.18494G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.925G>A MANE Select	ENSP00000307188.9:p.Gly309Arg
ENST00000362000.10:c.730G>A	ENSP00000354710.6:p.Gly244Arg
ENST00000380839.9:c.847G>A	ENSP00000370219.4:p.Gly283Arg
ENST00000395331.4:c.918+107G>A	ENSP00000378740.3:n.918+107G>A
ENST00000395332.8:c.925G>A	ENSP00000378741.3:p.Gly309Arg
ENST00000488343.2:c.94G>A	ENSP00000500864.1:p.Gly32Arg
ENST00000671817.1:c.847G>A	ENSP00000500462.1:p.Gly283Arg
ENST00000672498.1:c.*224G>A	ENSP00000500227.1:n.*224G>A
ENST00000672586.1:n.1684G>A
ENST00000672676.1:n.1949G>A
ENST00000673149.1:n.737G>A
ENST00000673350.1:n.3042G>A
ENST00000673518.1:c.847G>A	ENSP00000499889.1:p.Gly283Arg
ENST00000304874.13:c.925G>A	ENSP00000307188.9:p.Gly309Arg
ENST00000380839.8:c.847G>A	ENSP00000370219.4:p.Gly283Arg
ENST00000395331.3:c.918+107G>A	ENSP00000378740.3:n.918+107G>A
ENST00000395332.7:c.925G>A	ENSP00000378741.3:p.Gly309Arg
ENST00000450043.2:c.238G>A	ENSP00000396527.2:p.Gly80Arg
ENST00000464970.1:n.44G>A
ENST00000488343.1:n.94G>A
ENST00000493708.5:n.406G>A
NM_000048.3:c.925G>A	NP_000039.2:p.Gly309Arg
NM_001024943.1:c.925G>A	NP_001020114.1:p.Gly309Arg
NM_001024944.1:c.918+107G>A	NP_001020115.1:n.918+107G>A
NM_001024946.1:c.847G>A	NP_001020117.1:p.Gly283Arg
NM_000048.4:c.925G>A MANE Select	NP_000039.2:p.Gly309Arg
NM_001024943.2:c.925G>A	NP_001020114.1:p.Gly309Arg
NM_001024944.2:c.918+107G>A	NP_001020115.1:n.918+107G>A
NM_001024946.2:c.847G>A	NP_001020117.1:p.Gly283Arg