Canonical Allele Identifier: CA2745047

Gene: AHSG

Linked Data

• dbSNP Id: rs200778640
• ExAC: 3:186338431 G / C
• gnomAD v2: 3-186338431-G-C
• gnomAD v3: 3-186620642-G-C
• gnomAD v4: 3-186620642-G-C
• MyVariant Identifiers: chr3:g.186338431G>C (hg19) ; chr3:g.186620642G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186620642G>C , CM000665.2:g.186620642G>C	GRCh38
NC_000003.11:g.186338431G>C , CM000665.1:g.186338431G>C	GRCh37
NC_000003.10:g.187821125G>C	NCBI36
NG_011436.1:g.12582G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000411641.7:c.816G>C MANE Select	ENSP00000393887.2:p.Val272=
ENST00000273784.5:c.819G>C	ENSP00000273784.5:p.Val273=
ENST00000411641.6:c.816G>C	ENSP00000393887.2:p.Val272=
NM_001622.2:c.816G>C	NP_001613.2:p.Val272=
NM_001354571.1:c.819G>C	NP_001341500.1:p.Val273=
NM_001354572.1:c.813G>C	NP_001341501.1:p.Val271=
NM_001354573.1:c.732G>C	NP_001341502.1:p.Val244=
NM_001622.3:c.816G>C	NP_001613.2:p.Val272=
NM_001622.4:c.816G>C MANE Select	NP_001613.2:p.Val272=
NM_001354571.2:c.819G>C	NP_001341500.1:p.Val273=
NM_001354572.2:c.813G>C	NP_001341501.1:p.Val271=
NM_001354573.2:c.732G>C	NP_001341502.1:p.Val244=