Canonical Allele Identifier: CA1713928511

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092606C= , CM000669.2:g.66092606C=	GRCh38
NC_000007.13:g.65557593C= , CM000669.1:g.65557593C=	GRCh37
NC_000007.12:g.65195028C=	NCBI36
NG_009288.1:g.21818C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1193C= MANE Select	ENSP00000307188.9:p.Ala398=
ENST00000362000.10:c.998C=	ENSP00000354710.6:p.Ala333=
ENST00000380839.9:c.1115C=	ENSP00000370219.4:p.Ala372=
ENST00000395331.4:c.1133C=	ENSP00000378740.3:p.Ala378=
ENST00000395332.8:c.1193C=	ENSP00000378741.3:p.Ala398=
ENST00000488343.2:c.148-298C=	ENSP00000500864.1:n.148-298C=
ENST00000672498.1:c.*492C=	ENSP00000500227.1:n.*492C=
ENST00000672586.1:n.1952C=
ENST00000672676.1:n.2217C=
ENST00000673149.1:n.1005C=
ENST00000673350.1:n.3310C=
ENST00000673518.1:c.1115C=	ENSP00000499889.1:p.Ala372=
ENST00000304874.13:c.1193C=	ENSP00000307188.9:p.Ala398=
ENST00000380839.8:c.1115C=	ENSP00000370219.4:p.Ala372=
ENST00000395331.3:c.1133C=	ENSP00000378740.3:p.Ala378=
ENST00000395332.7:c.1193C=	ENSP00000378741.3:p.Ala398=
ENST00000450043.2:c.506C=	ENSP00000396527.2:p.Ala169=
ENST00000464970.1:n.396C=
ENST00000488343.1:n.148-298C=
ENST00000493708.5:n.674C=
NM_000048.3:c.1193C=	NP_000039.2:p.Ala398=
NM_001024943.1:c.1193C=	NP_001020114.1:p.Ala398=
NM_001024944.1:c.1133C=	NP_001020115.1:p.Ala378=
NM_001024946.1:c.1115C=	NP_001020117.1:p.Ala372=
NM_000048.4:c.1193C= MANE Select	NP_000039.2:p.Ala398=
NM_001024943.2:c.1193C=	NP_001020114.1:p.Ala398=
NM_001024944.2:c.1133C=	NP_001020115.1:p.Ala378=
NM_001024946.2:c.1115C=	NP_001020117.1:p.Ala372=