Canonical Allele Identifier: CA4277205

Gene: ASL

Linked Data

• ClinVar Variation Id: 1135724
• ClinVar RCV Id: RCV001471154
• dbSNP Id: rs550097103
• ExAC: 7:65554277 G / A
• gnomAD v2: 7-65554277-G-A
• gnomAD v3: 7-66089290-G-A
• gnomAD v4: 7-66089290-G-A
• MyVariant Identifiers: chr7:g.65554277G>A (hg19) ; chr7:g.66089290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089290G>A , CM000669.2:g.66089290G>A	GRCh38
NC_000007.13:g.65554277G>A , CM000669.1:g.65554277G>A	GRCh37
NC_000007.12:g.65191712G>A	NCBI36
NG_009288.1:g.18502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.933G>A MANE Select	ENSP00000307188.9:p.Leu311=
ENST00000362000.10:c.738G>A	ENSP00000354710.6:p.Leu246=
ENST00000380839.9:c.855G>A	ENSP00000370219.4:p.Leu285=
ENST00000395331.4:c.918+115G>A	ENSP00000378740.3:n.918+115G>A
ENST00000395332.8:c.933G>A	ENSP00000378741.3:p.Leu311=
ENST00000488343.2:c.102G>A	ENSP00000500864.1:p.Leu34=
ENST00000671817.1:c.855G>A	ENSP00000500462.1:p.Leu285=
ENST00000672498.1:c.*232G>A	ENSP00000500227.1:n.*232G>A
ENST00000672586.1:n.1692G>A
ENST00000672676.1:n.1957G>A
ENST00000673149.1:n.745G>A
ENST00000673350.1:n.3050G>A
ENST00000673518.1:c.855G>A	ENSP00000499889.1:p.Leu285=
ENST00000304874.13:c.933G>A	ENSP00000307188.9:p.Leu311=
ENST00000380839.8:c.855G>A	ENSP00000370219.4:p.Leu285=
ENST00000395331.3:c.918+115G>A	ENSP00000378740.3:n.918+115G>A
ENST00000395332.7:c.933G>A	ENSP00000378741.3:p.Leu311=
ENST00000450043.2:c.246G>A	ENSP00000396527.2:p.Leu82=
ENST00000464970.1:n.52G>A
ENST00000488343.1:n.102G>A
ENST00000493708.5:n.414G>A
NM_000048.3:c.933G>A	NP_000039.2:p.Leu311=
NM_001024943.1:c.933G>A	NP_001020114.1:p.Leu311=
NM_001024944.1:c.918+115G>A	NP_001020115.1:n.918+115G>A
NM_001024946.1:c.855G>A	NP_001020117.1:p.Leu285=
NM_000048.4:c.933G>A MANE Select	NP_000039.2:p.Leu311=
NM_001024943.2:c.933G>A	NP_001020114.1:p.Leu311=
NM_001024944.2:c.918+115G>A	NP_001020115.1:n.918+115G>A
NM_001024946.2:c.855G>A	NP_001020117.1:p.Leu285=