Canonical Allele Identifier: CA355714466

Gene: AHSG

Linked Data

• MyVariant Identifiers: chr3:g.186336347T>C (hg19) ; chr3:g.186618558T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186618558T>C , CM000665.2:g.186618558T>C	GRCh38
NC_000003.11:g.186336347T>C , CM000665.1:g.186336347T>C	GRCh37
NC_000003.10:g.187819041T>C	NCBI36
NG_011436.1:g.10498T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.596T>C MANE Select	ENSP00000393887.2:p.Val199Ala
ENST00000273784.5:c.599T>C	ENSP00000273784.5:p.Val200Ala
ENST00000411641.6:c.596T>C	ENSP00000393887.2:p.Val199Ala
NM_001622.2:c.596T>C	NP_001613.2:p.Val199Ala
NM_001354571.1:c.599T>C	NP_001341500.1:p.Val200Ala
NM_001354572.1:c.593T>C	NP_001341501.1:p.Val198Ala
NM_001354573.1:c.596T>C	NP_001341502.1:p.Val199Ala
NM_001622.3:c.596T>C	NP_001613.2:p.Val199Ala
NM_001622.4:c.596T>C MANE Select	NP_001613.2:p.Val199Ala
NM_001354571.2:c.599T>C	NP_001341500.1:p.Val200Ala
NM_001354572.2:c.593T>C	NP_001341501.1:p.Val198Ala
NM_001354573.2:c.596T>C	NP_001341502.1:p.Val199Ala