Canonical Allele Identifier: CA89628753

Gene: AHSG

Linked Data

• dbSNP Id: rs368604374
• gnomAD v4: 3-186620655-G-A
• MyVariant Identifiers: chr3:g.186338444G>A (hg19) ; chr3:g.186620655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186620655G>A , CM000665.2:g.186620655G>A	GRCh38
NC_000003.11:g.186338444G>A , CM000665.1:g.186338444G>A	GRCh37
NC_000003.10:g.187821138G>A	NCBI36
NG_011436.1:g.12595G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411641.7:c.829G>A MANE Select	ENSP00000393887.2:p.Ala277Thr
ENST00000273784.5:c.832G>A	ENSP00000273784.5:p.Ala278Thr
ENST00000411641.6:c.829G>A	ENSP00000393887.2:p.Ala277Thr
NM_001622.2:c.829G>A	NP_001613.2:p.Ala277Thr
NM_001354571.1:c.832G>A	NP_001341500.1:p.Ala278Thr
NM_001354572.1:c.826G>A	NP_001341501.1:p.Ala276Thr
NM_001354573.1:c.745G>A	NP_001341502.1:p.Ala249Thr
NM_001622.3:c.829G>A	NP_001613.2:p.Ala277Thr
NM_001622.4:c.829G>A MANE Select	NP_001613.2:p.Ala277Thr
NM_001354571.2:c.832G>A	NP_001341500.1:p.Ala278Thr
NM_001354572.2:c.826G>A	NP_001341501.1:p.Ala276Thr
NM_001354573.2:c.745G>A	NP_001341502.1:p.Ala249Thr