Canonical Allele Identifier: CA1713923231

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089106G= , CM000669.2:g.66089106G=	GRCh38
NC_000007.13:g.65554093G= , CM000669.1:g.65554093G=	GRCh37
NC_000007.12:g.65191528G=	NCBI36
NG_009288.1:g.18318G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.849G= MANE Select	ENSP00000307188.9:p.Leu283=
ENST00000362000.10:c.654G=	ENSP00000354710.6:p.Leu218=
ENST00000380839.9:c.771G=	ENSP00000370219.4:p.Leu257=
ENST00000395331.4:c.849G=	ENSP00000378740.3:p.Leu283=
ENST00000395332.8:c.849G=	ENSP00000378741.3:p.Leu283=
ENST00000488343.2:c.18G=	ENSP00000500864.1:p.Leu6=
ENST00000671817.1:c.771G=	ENSP00000500462.1:p.Leu257=
ENST00000672498.1:c.*148G=	ENSP00000500227.1:n.*148G=
ENST00000672586.1:n.1608G=
ENST00000672676.1:n.1873G=
ENST00000673149.1:n.661G=
ENST00000673350.1:n.2966G=
ENST00000673518.1:c.771G=	ENSP00000499889.1:p.Leu257=
ENST00000304874.13:c.849G=	ENSP00000307188.9:p.Leu283=
ENST00000362000.9:c.654G=	ENSP00000354710.5:p.Leu218=
ENST00000380839.8:c.771G=	ENSP00000370219.4:p.Leu257=
ENST00000395331.3:c.849G=	ENSP00000378740.3:p.Leu283=
ENST00000395332.7:c.849G=	ENSP00000378741.3:p.Leu283=
ENST00000450043.2:c.162G=	ENSP00000396527.2:p.Leu54=
ENST00000488343.1:n.18G=
ENST00000493708.5:n.230G=
NM_000048.3:c.849G=	NP_000039.2:p.Leu283=
NM_001024943.1:c.849G=	NP_001020114.1:p.Leu283=
NM_001024944.1:c.849G=	NP_001020115.1:p.Leu283=
NM_001024946.1:c.771G=	NP_001020117.1:p.Leu257=
NM_000048.4:c.849G= MANE Select	NP_000039.2:p.Leu283=
NM_001024943.2:c.849G=	NP_001020114.1:p.Leu283=
NM_001024944.2:c.849G=	NP_001020115.1:p.Leu283=
NM_001024946.2:c.771G=	NP_001020117.1:p.Leu257=