Canonical Allele Identifier: CA89625870

Gene: AHSG

Linked Data

• dbSNP Id: rs571480713
• gnomAD v2: 3-186335696-T-C
• gnomAD v3: 3-186617907-T-C
• gnomAD v4: 3-186617907-T-C
• MyVariant Identifiers: chr3:g.186335696T>C (hg19) ; chr3:g.186617907T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186617907T>C , CM000665.2:g.186617907T>C	GRCh38
NC_000003.11:g.186335696T>C , CM000665.1:g.186335696T>C	GRCh37
NC_000003.10:g.187818390T>C	NCBI36
NG_011436.1:g.9847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.573+557T>C MANE Select	ENSP00000393887.2:n.573+557T>C
ENST00000273784.5:c.576+557T>C	ENSP00000273784.5:n.576+557T>C
ENST00000411641.6:c.573+557T>C	ENSP00000393887.2:n.573+557T>C
ENST00000478441.1:n.1187T>C
NM_001622.2:c.573+557T>C	NP_001613.2:n.573+557T>C
NM_001354571.1:c.576+557T>C	NP_001341500.1:n.576+557T>C
NM_001354572.1:c.570+557T>C	NP_001341501.1:n.570+557T>C
NM_001354573.1:c.573+557T>C	NP_001341502.1:n.573+557T>C
NM_001622.3:c.573+557T>C	NP_001613.2:n.573+557T>C
NM_001622.4:c.573+557T>C MANE Select	NP_001613.2:n.573+557T>C
NM_001354571.2:c.576+557T>C	NP_001341500.1:n.576+557T>C
NM_001354572.2:c.570+557T>C	NP_001341501.1:n.570+557T>C
NM_001354573.2:c.573+557T>C	NP_001341502.1:n.573+557T>C