Canonical Allele Identifier: CA367645418

Gene: ASL

Linked Data

• ClinVar Variation Id: 427091
• ClinVar RCV Id: RCV000489046 ; RCV000669138
• dbSNP Id: rs1085307952
• gnomAD v3: 7-66089096-G-A
• gnomAD v4: 7-66089096-G-A
• MyVariant Identifiers: chr7:g.65554083G>A (hg19) ; chr7:g.66089096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089096G>A , CM000669.2:g.66089096G>A	GRCh38
NC_000007.13:g.65554083G>A , CM000669.1:g.65554083G>A	GRCh37
NC_000007.12:g.65191518G>A	NCBI36
NG_009288.1:g.18308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.839G>A MANE Select	ENSP00000307188.9:p.Gly280Glu
ENST00000362000.10:c.644G>A	ENSP00000354710.6:p.Gly215Glu
ENST00000380839.9:c.761G>A	ENSP00000370219.4:p.Gly254Glu
ENST00000395331.4:c.839G>A	ENSP00000378740.3:p.Gly280Glu
ENST00000395332.8:c.839G>A	ENSP00000378741.3:p.Gly280Glu
ENST00000488343.2:c.8G>A	ENSP00000500864.1:p.Gly3Glu
ENST00000671817.1:c.761G>A	ENSP00000500462.1:p.Gly254Glu
ENST00000672498.1:c.*138G>A	ENSP00000500227.1:n.*138G>A
ENST00000672586.1:n.1598G>A
ENST00000672676.1:n.1863G>A
ENST00000673149.1:n.651G>A
ENST00000673350.1:n.2956G>A
ENST00000673518.1:c.761G>A	ENSP00000499889.1:p.Gly254Glu
ENST00000304874.13:c.839G>A	ENSP00000307188.9:p.Gly280Glu
ENST00000362000.9:c.644G>A	ENSP00000354710.5:p.Gly215Glu
ENST00000380839.8:c.761G>A	ENSP00000370219.4:p.Gly254Glu
ENST00000395331.3:c.839G>A	ENSP00000378740.3:p.Gly280Glu
ENST00000395332.7:c.839G>A	ENSP00000378741.3:p.Gly280Glu
ENST00000450043.2:c.152G>A	ENSP00000396527.2:p.Gly51Glu
ENST00000488343.1:n.8G>A
ENST00000493708.5:n.220G>A
NM_000048.3:c.839G>A	NP_000039.2:p.Gly280Glu
NM_001024943.1:c.839G>A	NP_001020114.1:p.Gly280Glu
NM_001024944.1:c.839G>A	NP_001020115.1:p.Gly280Glu
NM_001024946.1:c.761G>A	NP_001020117.1:p.Gly254Glu
NM_000048.4:c.839G>A MANE Select	NP_000039.2:p.Gly280Glu
NM_001024943.2:c.839G>A	NP_001020114.1:p.Gly280Glu
NM_001024944.2:c.839G>A	NP_001020115.1:p.Gly280Glu
NM_001024946.2:c.761G>A	NP_001020117.1:p.Gly254Glu