Canonical Allele Identifier: CA1713923691

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089287C= , CM000669.2:g.66089287C=	GRCh38
NC_000007.13:g.65554274C= , CM000669.1:g.65554274C=	GRCh37
NC_000007.12:g.65191709C=	NCBI36
NG_009288.1:g.18499C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.930C= MANE Select	ENSP00000307188.9:p.Leu310=
ENST00000362000.10:c.735C=	ENSP00000354710.6:p.Leu245=
ENST00000380839.9:c.852C=	ENSP00000370219.4:p.Leu284=
ENST00000395331.4:c.918+112C=	ENSP00000378740.3:n.918+112C=
ENST00000395332.8:c.930C=	ENSP00000378741.3:p.Leu310=
ENST00000488343.2:c.99C=	ENSP00000500864.1:p.Leu33=
ENST00000671817.1:c.852C=	ENSP00000500462.1:p.Leu284=
ENST00000672498.1:c.*229C=	ENSP00000500227.1:n.*229C=
ENST00000672586.1:n.1689C=
ENST00000672676.1:n.1954C=
ENST00000673149.1:n.742C=
ENST00000673350.1:n.3047C=
ENST00000673518.1:c.852C=	ENSP00000499889.1:p.Leu284=
ENST00000304874.13:c.930C=	ENSP00000307188.9:p.Leu310=
ENST00000380839.8:c.852C=	ENSP00000370219.4:p.Leu284=
ENST00000395331.3:c.918+112C=	ENSP00000378740.3:n.918+112C=
ENST00000395332.7:c.930C=	ENSP00000378741.3:p.Leu310=
ENST00000450043.2:c.243C=	ENSP00000396527.2:p.Leu81=
ENST00000464970.1:n.49C=
ENST00000488343.1:n.99C=
ENST00000493708.5:n.411C=
NM_000048.3:c.930C=	NP_000039.2:p.Leu310=
NM_001024943.1:c.930C=	NP_001020114.1:p.Leu310=
NM_001024944.1:c.918+112C=	NP_001020115.1:n.918+112C=
NM_001024946.1:c.852C=	NP_001020117.1:p.Leu284=
NM_000048.4:c.930C= MANE Select	NP_000039.2:p.Leu310=
NM_001024943.2:c.930C=	NP_001020114.1:p.Leu310=
NM_001024944.2:c.918+112C=	NP_001020115.1:n.918+112C=
NM_001024946.2:c.852C=	NP_001020117.1:p.Leu284=