Canonical Allele Identifier: CA1713923686

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089285C= , CM000669.2:g.66089285C=	GRCh38
NC_000007.13:g.65554272C= , CM000669.1:g.65554272C=	GRCh37
NC_000007.12:g.65191707C=	NCBI36
NG_009288.1:g.18497C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.928C= MANE Select	ENSP00000307188.9:p.Leu310=
ENST00000362000.10:c.733C=	ENSP00000354710.6:p.Leu245=
ENST00000380839.9:c.850C=	ENSP00000370219.4:p.Leu284=
ENST00000395331.4:c.918+110C=	ENSP00000378740.3:n.918+110C=
ENST00000395332.8:c.928C=	ENSP00000378741.3:p.Leu310=
ENST00000488343.2:c.97C=	ENSP00000500864.1:p.Leu33=
ENST00000671817.1:c.850C=	ENSP00000500462.1:p.Leu284=
ENST00000672498.1:c.*227C=	ENSP00000500227.1:n.*227C=
ENST00000672586.1:n.1687C=
ENST00000672676.1:n.1952C=
ENST00000673149.1:n.740C=
ENST00000673350.1:n.3045C=
ENST00000673518.1:c.850C=	ENSP00000499889.1:p.Leu284=
ENST00000304874.13:c.928C=	ENSP00000307188.9:p.Leu310=
ENST00000380839.8:c.850C=	ENSP00000370219.4:p.Leu284=
ENST00000395331.3:c.918+110C=	ENSP00000378740.3:n.918+110C=
ENST00000395332.7:c.928C=	ENSP00000378741.3:p.Leu310=
ENST00000450043.2:c.241C=	ENSP00000396527.2:p.Leu81=
ENST00000464970.1:n.47C=
ENST00000488343.1:n.97C=
ENST00000493708.5:n.409C=
NM_000048.3:c.928C=	NP_000039.2:p.Leu310=
NM_001024943.1:c.928C=	NP_001020114.1:p.Leu310=
NM_001024944.1:c.918+110C=	NP_001020115.1:n.918+110C=
NM_001024946.1:c.850C=	NP_001020117.1:p.Leu284=
NM_000048.4:c.928C= MANE Select	NP_000039.2:p.Leu310=
NM_001024943.2:c.928C=	NP_001020114.1:p.Leu310=
NM_001024944.2:c.918+110C=	NP_001020115.1:n.918+110C=
NM_001024946.2:c.850C=	NP_001020117.1:p.Leu284=