Canonical Allele Identifier: CA1713922827

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088904G= , CM000669.2:g.66088904G=	GRCh38
NC_000007.13:g.65553891G= , CM000669.1:g.65553891G=	GRCh37
NC_000007.12:g.65191326G=	NCBI36
NG_009288.1:g.18116G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.816G= MANE Select	ENSP00000307188.9:p.Gln272=
ENST00000362000.10:c.621G=	ENSP00000354710.6:p.Gln207=
ENST00000380839.9:c.738G=	ENSP00000370219.4:p.Gln246=
ENST00000395331.4:c.816G=	ENSP00000378740.3:p.Gln272=
ENST00000395332.8:c.816G=	ENSP00000378741.3:p.Gln272=
ENST00000671817.1:c.738G=	ENSP00000500462.1:p.Gln246=
ENST00000672498.1:c.*115G=	ENSP00000500227.1:n.*115G=
ENST00000672586.1:n.1575G=
ENST00000672676.1:n.1840G=
ENST00000673149.1:n.628G=
ENST00000673350.1:n.2933G=
ENST00000673518.1:c.738G=	ENSP00000499889.1:p.Gln246=
ENST00000304874.13:c.816G=	ENSP00000307188.9:p.Gln272=
ENST00000362000.9:c.621G=	ENSP00000354710.5:p.Gln207=
ENST00000380839.8:c.738G=	ENSP00000370219.4:p.Gln246=
ENST00000395331.3:c.816G=	ENSP00000378740.3:p.Gln272=
ENST00000395332.7:c.816G=	ENSP00000378741.3:p.Gln272=
ENST00000450043.2:c.129G=	ENSP00000396527.2:p.Gln43=
ENST00000493708.5:n.197G=
NM_000048.3:c.816G=	NP_000039.2:p.Gln272=
NM_001024943.1:c.816G=	NP_001020114.1:p.Gln272=
NM_001024944.1:c.816G=	NP_001020115.1:p.Gln272=
NM_001024946.1:c.738G=	NP_001020117.1:p.Gln246=
NM_000048.4:c.816G= MANE Select	NP_000039.2:p.Gln272=
NM_001024943.2:c.816G=	NP_001020114.1:p.Gln272=
NM_001024944.2:c.816G=	NP_001020115.1:p.Gln272=
NM_001024946.2:c.738G=	NP_001020117.1:p.Gln246=