Canonical Allele Identifier: CA367642887

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087347G>A , CM000669.2:g.66087347G>A	GRCh38
NC_000007.13:g.65552334G>A , CM000669.1:g.65552334G>A	GRCh37
NC_000007.12:g.65189769G>A	NCBI36
NG_009288.1:g.16559G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.616G>A MANE Select	NP_000039.2:p.Gly206Ser
ENST00000304874.14:c.616G>A MANE Select	ENSP00000307188.9:p.Gly206Ser
NM_000048.3:c.616G>A	NP_000039.2:p.Gly206Ser
NM_001024943.1:c.616G>A	NP_001020114.1:p.Gly206Ser
NM_001024943.2:c.616G>A	NP_001020114.1:p.Gly206Ser
NM_001024944.1:c.616G>A	NP_001020115.1:p.Gly206Ser
NM_001024944.2:c.616G>A	NP_001020115.1:p.Gly206Ser
NM_001024946.1:c.538G>A	NP_001020117.1:p.Gly180Ser
NM_001024946.2:c.538G>A	NP_001020117.1:p.Gly180Ser
ENST00000304874.13:c.616G>A	ENSP00000307188.9:p.Gly206Ser
ENST00000362000.10:c.421G>A	ENSP00000354710.6:p.Gly141Ser
ENST00000362000.9:c.421G>A	ENSP00000354710.5:p.Gly141Ser
ENST00000380839.8:c.538G>A	ENSP00000370219.4:p.Gly180Ser
ENST00000380839.9:c.538G>A	ENSP00000370219.4:p.Gly180Ser
ENST00000395331.3:c.616G>A	ENSP00000378740.3:p.Gly206Ser
ENST00000395331.4:c.616G>A	ENSP00000378740.3:p.Gly206Ser
ENST00000395332.7:c.616G>A	ENSP00000378741.3:p.Gly206Ser
ENST00000395332.8:c.616G>A	ENSP00000378741.3:p.Gly206Ser
ENST00000671817.1:c.538G>A	ENSP00000500462.1:p.Gly180Ser
ENST00000672498.1:c.447-382G>A	ENSP00000500227.1:n.447-382G>A
ENST00000672586.1:n.1033G>A
ENST00000672676.1:n.1298G>A
ENST00000673149.1:n.428G>A
ENST00000673350.1:n.1376G>A
ENST00000673518.1:c.538G>A	ENSP00000499889.1:p.Gly180Ser
ENST00000673594.1:n.465G>A