Canonical Allele Identifier: CA367644371

Gene: ASL

Linked Data

• gnomAD v4: 7-66087729-A-G
• MyVariant Identifiers: chr7:g.65552716A>G (hg19) ; chr7:g.66087729A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087729A>G , CM000669.2:g.66087729A>G	GRCh38
NC_000007.13:g.65552716A>G , CM000669.1:g.65552716A>G	GRCh37
NC_000007.12:g.65190151A>G	NCBI36
NG_009288.1:g.16941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.656A>G MANE Select	ENSP00000307188.9:p.Glu219Gly
ENST00000362000.10:c.461A>G	ENSP00000354710.6:p.Glu154Gly
ENST00000380839.9:c.578A>G	ENSP00000370219.4:p.Glu193Gly
ENST00000395331.4:c.656A>G	ENSP00000378740.3:p.Glu219Gly
ENST00000395332.8:c.656A>G	ENSP00000378741.3:p.Glu219Gly
ENST00000671817.1:c.578A>G	ENSP00000500462.1:p.Glu193Gly
ENST00000672498.1:c.447A>G	ENSP00000500227.1:p.Ala149=
ENST00000672586.1:n.1415A>G
ENST00000672676.1:n.1680A>G
ENST00000673149.1:n.468A>G
ENST00000673350.1:n.1758A>G
ENST00000673518.1:c.578A>G	ENSP00000499889.1:p.Glu193Gly
ENST00000304874.13:c.656A>G	ENSP00000307188.9:p.Glu219Gly
ENST00000362000.9:c.461A>G	ENSP00000354710.5:p.Glu154Gly
ENST00000380839.8:c.578A>G	ENSP00000370219.4:p.Glu193Gly
ENST00000395331.3:c.656A>G	ENSP00000378740.3:p.Glu219Gly
ENST00000395332.7:c.656A>G	ENSP00000378741.3:p.Glu219Gly
ENST00000493708.5:n.37A>G
NM_000048.3:c.656A>G	NP_000039.2:p.Glu219Gly
NM_001024943.1:c.656A>G	NP_001020114.1:p.Glu219Gly
NM_001024944.1:c.656A>G	NP_001020115.1:p.Glu219Gly
NM_001024946.1:c.578A>G	NP_001020117.1:p.Glu193Gly
NM_000048.4:c.656A>G MANE Select	NP_000039.2:p.Glu219Gly
NM_001024943.2:c.656A>G	NP_001020114.1:p.Glu219Gly
NM_001024944.2:c.656A>G	NP_001020115.1:p.Glu219Gly
NM_001024946.2:c.578A>G	NP_001020117.1:p.Glu193Gly