Canonical Allele Identifier: CA1713923805

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089335G= , CM000669.2:g.66089335G=	GRCh38
NC_000007.13:g.65554322G= , CM000669.1:g.65554322G=	GRCh37
NC_000007.12:g.65191757G=	NCBI36
NG_009288.1:g.18547G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.978G= MANE Select	ENSP00000307188.9:p.Gln326=
ENST00000362000.10:c.783G=	ENSP00000354710.6:p.Gln261=
ENST00000380839.9:c.900G=	ENSP00000370219.4:p.Gln300=
ENST00000395331.4:c.918+160G=	ENSP00000378740.3:n.918+160G=
ENST00000395332.8:c.978G=	ENSP00000378741.3:p.Gln326=
ENST00000488343.2:c.147G=	ENSP00000500864.1:p.Gln49=
ENST00000671817.1:c.900G=	ENSP00000500462.1:p.Gln300=
ENST00000672498.1:c.*277G=	ENSP00000500227.1:n.*277G=
ENST00000672586.1:n.1737G=
ENST00000672676.1:n.2002G=
ENST00000673149.1:n.790G=
ENST00000673350.1:n.3095G=
ENST00000673518.1:c.900G=	ENSP00000499889.1:p.Gln300=
ENST00000304874.13:c.978G=	ENSP00000307188.9:p.Gln326=
ENST00000380839.8:c.900G=	ENSP00000370219.4:p.Gln300=
ENST00000395331.3:c.918+160G=	ENSP00000378740.3:n.918+160G=
ENST00000395332.7:c.978G=	ENSP00000378741.3:p.Gln326=
ENST00000450043.2:c.291G=	ENSP00000396527.2:p.Gln97=
ENST00000464970.1:n.97G=
ENST00000488343.1:n.147G=
ENST00000493708.5:n.459G=
NM_000048.3:c.978G=	NP_000039.2:p.Gln326=
NM_001024943.1:c.978G=	NP_001020114.1:p.Gln326=
NM_001024944.1:c.918+160G=	NP_001020115.1:n.918+160G=
NM_001024946.1:c.900G=	NP_001020117.1:p.Gln300=
NM_000048.4:c.978G= MANE Select	NP_000039.2:p.Gln326=
NM_001024943.2:c.978G=	NP_001020114.1:p.Gln326=
NM_001024944.2:c.918+160G=	NP_001020115.1:n.918+160G=
NM_001024946.2:c.900G=	NP_001020117.1:p.Gln300=