Canonical Allele Identifier: CA1713929260

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092877C= , CM000669.2:g.66092877C=	GRCh38
NC_000007.13:g.65557864C= , CM000669.1:g.65557864C=	GRCh37
NC_000007.12:g.65195299C=	NCBI36
NG_009288.1:g.22089C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1360C= MANE Select	NP_000039.2:p.Gln454=
ENST00000304874.14:c.1360C= MANE Select	ENSP00000307188.9:p.Gln454=
NM_000048.3:c.1360C=	NP_000039.2:p.Gln454=
NM_001024943.1:c.1360C=	NP_001020114.1:p.Gln454=
NM_001024943.2:c.1360C=	NP_001020114.1:p.Gln454=
NM_001024944.1:c.1300C=	NP_001020115.1:p.Gln434=
NM_001024944.2:c.1300C=	NP_001020115.1:p.Gln434=
NM_001024946.1:c.1282C=	NP_001020117.1:p.Gln428=
NM_001024946.2:c.1282C=	NP_001020117.1:p.Gln428=
ENST00000304874.13:c.1360C=	ENSP00000307188.9:p.Gln454=
ENST00000362000.10:c.1165C=	ENSP00000354710.6:p.Gln389=
ENST00000380839.8:c.1282C=	ENSP00000370219.4:p.Gln428=
ENST00000380839.9:c.1282C=	ENSP00000370219.4:p.Gln428=
ENST00000395331.3:c.1300C=	ENSP00000378740.3:p.Gln434=
ENST00000395331.4:c.1300C=	ENSP00000378740.3:p.Gln434=
ENST00000395332.7:c.1360C=	ENSP00000378741.3:p.Gln454=
ENST00000395332.8:c.1360C=	ENSP00000378741.3:p.Gln454=
ENST00000450043.2:c.563+214C=	ENSP00000396527.2:n.563+214C=
ENST00000464970.1:n.563C=
ENST00000488343.1:n.148-27C=
ENST00000488343.2:c.148-27C=	ENSP00000500864.1:n.148-27C=
ENST00000493708.5:n.841C=
ENST00000672498.1:c.*763C=	ENSP00000500227.1:n.*763C=
ENST00000672586.1:n.2119C=
ENST00000672676.1:n.2384C=
ENST00000673149.1:n.1172C=
ENST00000673350.1:n.3477C=
ENST00000673518.1:c.1282C=	ENSP00000499889.1:p.Gln428=