Canonical Allele Identifier: CA2745077

Gene: AHSG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186620776G>A , CM000665.2:g.186620776G>A	GRCh38
NC_000003.11:g.186338565G>A , CM000665.1:g.186338565G>A	GRCh37
NC_000003.10:g.187821259G>A	NCBI36
NG_011436.1:g.12716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.950G>A MANE Select	ENSP00000393887.2:p.Arg317His
ENST00000273784.5:c.953G>A	ENSP00000273784.5:p.Arg318His
ENST00000411641.6:c.950G>A	ENSP00000393887.2:p.Arg317His
NM_001622.2:c.950G>A	NP_001613.2:p.Arg317His
NM_001354571.1:c.953G>A	NP_001341500.1:p.Arg318His
NM_001354572.1:c.947G>A	NP_001341501.1:p.Arg316His
NM_001354573.1:c.866G>A	NP_001341502.1:p.Arg289His
NM_001622.3:c.950G>A	NP_001613.2:p.Arg317His
NM_001622.4:c.950G>A MANE Select	NP_001613.2:p.Arg317His
NM_001354571.2:c.953G>A	NP_001341500.1:p.Arg318His
NM_001354572.2:c.947G>A	NP_001341501.1:p.Arg316His
NM_001354573.2:c.866G>A	NP_001341502.1:p.Arg289His