Canonical Allele Identifier: CA367642974

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087369G>A , CM000669.2:g.66087369G>A	GRCh38
NC_000007.13:g.65552356G>A , CM000669.1:g.65552356G>A	GRCh37
NC_000007.12:g.65189791G>A	NCBI36
NG_009288.1:g.16581G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.638G>A MANE Select	NP_000039.2:p.Arg213Gln
ENST00000304874.14:c.638G>A MANE Select	ENSP00000307188.9:p.Arg213Gln
NM_000048.3:c.638G>A	NP_000039.2:p.Arg213Gln
NM_001024943.1:c.638G>A	NP_001020114.1:p.Arg213Gln
NM_001024943.2:c.638G>A	NP_001020114.1:p.Arg213Gln
NM_001024944.1:c.638G>A	NP_001020115.1:p.Arg213Gln
NM_001024944.2:c.638G>A	NP_001020115.1:p.Arg213Gln
NM_001024946.1:c.560G>A	NP_001020117.1:p.Arg187Gln
NM_001024946.2:c.560G>A	NP_001020117.1:p.Arg187Gln
ENST00000304874.13:c.638G>A	ENSP00000307188.9:p.Arg213Gln
ENST00000362000.10:c.443G>A	ENSP00000354710.6:p.Arg148Gln
ENST00000362000.9:c.443G>A	ENSP00000354710.5:p.Arg148Gln
ENST00000380839.8:c.560G>A	ENSP00000370219.4:p.Arg187Gln
ENST00000380839.9:c.560G>A	ENSP00000370219.4:p.Arg187Gln
ENST00000395331.3:c.638G>A	ENSP00000378740.3:p.Arg213Gln
ENST00000395331.4:c.638G>A	ENSP00000378740.3:p.Arg213Gln
ENST00000395332.7:c.638G>A	ENSP00000378741.3:p.Arg213Gln
ENST00000395332.8:c.638G>A	ENSP00000378741.3:p.Arg213Gln
ENST00000671817.1:c.560G>A	ENSP00000500462.1:p.Arg187Gln
ENST00000672498.1:c.447-360G>A	ENSP00000500227.1:n.447-360G>A
ENST00000672586.1:n.1055G>A
ENST00000672676.1:n.1320G>A
ENST00000673149.1:n.450G>A
ENST00000673350.1:n.1398G>A
ENST00000673518.1:c.560G>A	ENSP00000499889.1:p.Arg187Gln
ENST00000673594.1:n.487G>A