Canonical Allele Identifier: CA4276944

Gene: ASL

Linked Data

• ClinVar Variation Id: 643210
• ClinVar RCV Id: RCV000796865
• dbSNP Id: rs201352504
• ExAC: 7:65548116 G / A
• gnomAD v2: 7-65548116-G-A
• gnomAD v3: 7-66083129-G-A
• gnomAD v4: 7-66083129-G-A
• MyVariant Identifiers: chr7:g.65548116G>A (hg19) ; chr7:g.66083129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083129G>A , CM000669.2:g.66083129G>A	GRCh38
NC_000007.13:g.65548116G>A , CM000669.1:g.65548116G>A	GRCh37
NC_000007.12:g.65185551G>A	NCBI36
NG_009288.1:g.12341G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.401G>A MANE Select	ENSP00000307188.9:p.Gly134Asp
ENST00000362000.10:c.206G>A	ENSP00000354710.6:p.Gly69Asp
ENST00000380839.9:c.401G>A	ENSP00000370219.4:p.Gly134Asp
ENST00000395331.4:c.401G>A	ENSP00000378740.3:p.Gly134Asp
ENST00000395332.8:c.401G>A	ENSP00000378741.3:p.Gly134Asp
ENST00000671817.1:c.401G>A	ENSP00000500462.1:p.Gly134Asp
ENST00000672498.1:c.401G>A	ENSP00000500227.1:p.Gly134Asp
ENST00000672586.1:n.306G>A
ENST00000672676.1:n.571G>A
ENST00000673149.1:n.213G>A
ENST00000673350.1:n.649G>A
ENST00000673518.1:c.401G>A	ENSP00000499889.1:p.Gly134Asp
ENST00000673594.1:n.250G>A
ENST00000304874.13:c.401G>A	ENSP00000307188.9:p.Gly134Asp
ENST00000362000.9:c.206G>A	ENSP00000354710.5:p.Gly69Asp
ENST00000380839.8:c.401G>A	ENSP00000370219.4:p.Gly134Asp
ENST00000395331.3:c.401G>A	ENSP00000378740.3:p.Gly134Asp
ENST00000395332.7:c.401G>A	ENSP00000378741.3:p.Gly134Asp
ENST00000487982.5:n.467G>A
ENST00000496336.1:n.782G>A
NM_000048.3:c.401G>A	NP_000039.2:p.Gly134Asp
NM_001024943.1:c.401G>A	NP_001020114.1:p.Gly134Asp
NM_001024944.1:c.401G>A	NP_001020115.1:p.Gly134Asp
NM_001024946.1:c.401G>A	NP_001020117.1:p.Gly134Asp
NM_000048.4:c.401G>A MANE Select	NP_000039.2:p.Gly134Asp
NM_001024943.2:c.401G>A	NP_001020114.1:p.Gly134Asp
NM_001024944.2:c.401G>A	NP_001020115.1:p.Gly134Asp
NM_001024946.2:c.401G>A	NP_001020117.1:p.Gly134Asp