Canonical Allele Identifier: CA1713923285

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089134T= , CM000669.2:g.66089134T=	GRCh38
NC_000007.13:g.65554121T= , CM000669.1:g.65554121T=	GRCh37
NC_000007.12:g.65191556T=	NCBI36
NG_009288.1:g.18346T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.877T= MANE Select	ENSP00000307188.9:p.Leu293=
ENST00000362000.10:c.682T=	ENSP00000354710.6:p.Leu228=
ENST00000380839.9:c.799T=	ENSP00000370219.4:p.Leu267=
ENST00000395331.4:c.877T=	ENSP00000378740.3:p.Leu293=
ENST00000395332.8:c.877T=	ENSP00000378741.3:p.Leu293=
ENST00000488343.2:c.46T=	ENSP00000500864.1:p.Leu16=
ENST00000671817.1:c.799T=	ENSP00000500462.1:p.Leu267=
ENST00000672498.1:c.*176T=	ENSP00000500227.1:n.*176T=
ENST00000672586.1:n.1636T=
ENST00000672676.1:n.1901T=
ENST00000673149.1:n.689T=
ENST00000673350.1:n.2994T=
ENST00000673518.1:c.799T=	ENSP00000499889.1:p.Leu267=
ENST00000304874.13:c.877T=	ENSP00000307188.9:p.Leu293=
ENST00000362000.9:c.682T=	ENSP00000354710.5:p.Leu228=
ENST00000380839.8:c.799T=	ENSP00000370219.4:p.Leu267=
ENST00000395331.3:c.877T=	ENSP00000378740.3:p.Leu293=
ENST00000395332.7:c.877T=	ENSP00000378741.3:p.Leu293=
ENST00000450043.2:c.190T=	ENSP00000396527.2:p.Leu64=
ENST00000488343.1:n.46T=
ENST00000493708.5:n.258T=
NM_000048.3:c.877T=	NP_000039.2:p.Leu293=
NM_001024943.1:c.877T=	NP_001020114.1:p.Leu293=
NM_001024944.1:c.877T=	NP_001020115.1:p.Leu293=
NM_001024946.1:c.799T=	NP_001020117.1:p.Leu267=
NM_000048.4:c.877T= MANE Select	NP_000039.2:p.Leu293=
NM_001024943.2:c.877T=	NP_001020114.1:p.Leu293=
NM_001024944.2:c.877T=	NP_001020115.1:p.Leu293=
NM_001024946.2:c.799T=	NP_001020117.1:p.Leu267=