Canonical Allele Identifier: CA355715616

Gene: AHSG

Linked Data

• dbSNP Id: rs70961709
• gnomAD v2: 3-186338441-G-C
• gnomAD v4: 3-186620652-G-C
• MyVariant Identifiers: chr3:g.186338441G>C (hg19) ; chr3:g.186620652G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186620652G>C , CM000665.2:g.186620652G>C	GRCh38
NC_000003.11:g.186338441G>C , CM000665.1:g.186338441G>C	GRCh37
NC_000003.10:g.187821135G>C	NCBI36
NG_011436.1:g.12592G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000411641.7:c.826G>C MANE Select	ENSP00000393887.2:p.Asp276His
ENST00000273784.5:c.829G>C	ENSP00000273784.5:p.Asp277His
ENST00000411641.6:c.826G>C	ENSP00000393887.2:p.Asp276His
NM_001622.2:c.826G>C	NP_001613.2:p.Asp276His
NM_001354571.1:c.829G>C	NP_001341500.1:p.Asp277His
NM_001354572.1:c.823G>C	NP_001341501.1:p.Asp275His
NM_001354573.1:c.742G>C	NP_001341502.1:p.Asp248His
NM_001622.3:c.826G>C	NP_001613.2:p.Asp276His
NM_001622.4:c.826G>C MANE Select	NP_001613.2:p.Asp276His
NM_001354571.2:c.829G>C	NP_001341500.1:p.Asp277His
NM_001354572.2:c.823G>C	NP_001341501.1:p.Asp275His
NM_001354573.2:c.742G>C	NP_001341502.1:p.Asp248His