Canonical Allele Identifier: CA2744966

Gene: AHSG

Linked Data

• dbSNP Id: rs745891423
• ExAC: 3:186336397 G / A
• gnomAD v2: 3-186336397-G-A
• gnomAD v4: 3-186618608-G-A
• MyVariant Identifiers: chr3:g.186336397G>A (hg19) ; chr3:g.186618608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186618608G>A , CM000665.2:g.186618608G>A	GRCh38
NC_000003.11:g.186336397G>A , CM000665.1:g.186336397G>A	GRCh37
NC_000003.10:g.187819091G>A	NCBI36
NG_011436.1:g.10548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.646G>A MANE Select	ENSP00000393887.2:p.Ala216Thr
ENST00000273784.5:c.649G>A	ENSP00000273784.5:p.Ala217Thr
ENST00000411641.6:c.646G>A	ENSP00000393887.2:p.Ala216Thr
NM_001622.2:c.646G>A	NP_001613.2:p.Ala216Thr
NM_001354571.1:c.649G>A	NP_001341500.1:p.Ala217Thr
NM_001354572.1:c.643G>A	NP_001341501.1:p.Ala215Thr
NM_001354573.1:c.646G>A	NP_001341502.1:p.Ala216Thr
NM_001622.3:c.646G>A	NP_001613.2:p.Ala216Thr
NM_001622.4:c.646G>A MANE Select	NP_001613.2:p.Ala216Thr
NM_001354571.2:c.649G>A	NP_001341500.1:p.Ala217Thr
NM_001354572.2:c.643G>A	NP_001341501.1:p.Ala215Thr
NM_001354573.2:c.646G>A	NP_001341502.1:p.Ala216Thr