Canonical Allele Identifier: CA367645422

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554085A>G (hg19) ; chr7:g.66089098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089098A>G , CM000669.2:g.66089098A>G	GRCh38
NC_000007.13:g.65554085A>G , CM000669.1:g.65554085A>G	GRCh37
NC_000007.12:g.65191520A>G	NCBI36
NG_009288.1:g.18310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.841A>G MANE Select	ENSP00000307188.9:p.Ser281Gly
ENST00000362000.10:c.646A>G	ENSP00000354710.6:p.Ser216Gly
ENST00000380839.9:c.763A>G	ENSP00000370219.4:p.Ser255Gly
ENST00000395331.4:c.841A>G	ENSP00000378740.3:p.Ser281Gly
ENST00000395332.8:c.841A>G	ENSP00000378741.3:p.Ser281Gly
ENST00000488343.2:c.10A>G	ENSP00000500864.1:p.Ser4Gly
ENST00000671817.1:c.763A>G	ENSP00000500462.1:p.Ser255Gly
ENST00000672498.1:c.*140A>G	ENSP00000500227.1:n.*140A>G
ENST00000672586.1:n.1600A>G
ENST00000672676.1:n.1865A>G
ENST00000673149.1:n.653A>G
ENST00000673350.1:n.2958A>G
ENST00000673518.1:c.763A>G	ENSP00000499889.1:p.Ser255Gly
ENST00000304874.13:c.841A>G	ENSP00000307188.9:p.Ser281Gly
ENST00000362000.9:c.646A>G	ENSP00000354710.5:p.Ser216Gly
ENST00000380839.8:c.763A>G	ENSP00000370219.4:p.Ser255Gly
ENST00000395331.3:c.841A>G	ENSP00000378740.3:p.Ser281Gly
ENST00000395332.7:c.841A>G	ENSP00000378741.3:p.Ser281Gly
ENST00000450043.2:c.154A>G	ENSP00000396527.2:p.Ser52Gly
ENST00000488343.1:n.10A>G
ENST00000493708.5:n.222A>G
NM_000048.3:c.841A>G	NP_000039.2:p.Ser281Gly
NM_001024943.1:c.841A>G	NP_001020114.1:p.Ser281Gly
NM_001024944.1:c.841A>G	NP_001020115.1:p.Ser281Gly
NM_001024946.1:c.763A>G	NP_001020117.1:p.Ser255Gly
NM_000048.4:c.841A>G MANE Select	NP_000039.2:p.Ser281Gly
NM_001024943.2:c.841A>G	NP_001020114.1:p.Ser281Gly
NM_001024944.2:c.841A>G	NP_001020115.1:p.Ser281Gly
NM_001024946.2:c.763A>G	NP_001020117.1:p.Ser255Gly