Canonical Allele Identifier: CA220296

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089333C>A , CM000669.2:g.66089333C>A	GRCh38
NC_000007.13:g.65554320C>A , CM000669.1:g.65554320C>A	GRCh37
NC_000007.12:g.65191755C>A	NCBI36
NG_009288.1:g.18545C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.976C>A MANE Select	NP_000039.2:p.Gln326Lys
ENST00000304874.14:c.976C>A MANE Select	ENSP00000307188.9:p.Gln326Lys
NM_000048.3:c.976C>A	NP_000039.2:p.Gln326Lys
NM_001024943.1:c.976C>A	NP_001020114.1:p.Gln326Lys
NM_001024943.2:c.976C>A	NP_001020114.1:p.Gln326Lys
NM_001024944.1:c.918+158C>A	NP_001020115.1:n.918+158C>A
NM_001024944.2:c.918+158C>A	NP_001020115.1:n.918+158C>A
NM_001024946.1:c.898C>A	NP_001020117.1:p.Gln300Lys
NM_001024946.2:c.898C>A	NP_001020117.1:p.Gln300Lys
ENST00000304874.13:c.976C>A	ENSP00000307188.9:p.Gln326Lys
ENST00000362000.10:c.781C>A	ENSP00000354710.6:p.Gln261Lys
ENST00000380839.8:c.898C>A	ENSP00000370219.4:p.Gln300Lys
ENST00000380839.9:c.898C>A	ENSP00000370219.4:p.Gln300Lys
ENST00000395331.3:c.918+158C>A	ENSP00000378740.3:n.918+158C>A
ENST00000395331.4:c.918+158C>A	ENSP00000378740.3:n.918+158C>A
ENST00000395332.7:c.976C>A	ENSP00000378741.3:p.Gln326Lys
ENST00000395332.8:c.976C>A	ENSP00000378741.3:p.Gln326Lys
ENST00000450043.2:c.289C>A	ENSP00000396527.2:p.Gln97Lys
ENST00000464970.1:n.95C>A
ENST00000488343.1:n.145C>A
ENST00000488343.2:c.145C>A	ENSP00000500864.1:p.Gln49Lys
ENST00000493708.5:n.457C>A
ENST00000671817.1:c.898C>A	ENSP00000500462.1:p.Gln300Lys
ENST00000672498.1:c.*275C>A	ENSP00000500227.1:n.*275C>A
ENST00000672586.1:n.1735C>A
ENST00000672676.1:n.2000C>A
ENST00000673149.1:n.788C>A
ENST00000673350.1:n.3093C>A
ENST00000673518.1:c.898C>A	ENSP00000499889.1:p.Gln300Lys