Canonical Allele Identifier: CA2745049

Gene: AHSG

Linked Data

• dbSNP Id: rs779594129
• ExAC: 3:186338439 C / A
• gnomAD v2: 3-186338439-C-A
• gnomAD v4: 3-186620650-C-A
• MyVariant Identifiers: chr3:g.186338439C>A (hg19) ; chr3:g.186620650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186620650C>A , CM000665.2:g.186620650C>A	GRCh38
NC_000003.11:g.186338439C>A , CM000665.1:g.186338439C>A	GRCh37
NC_000003.10:g.187821133C>A	NCBI36
NG_011436.1:g.12590C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.824C>A MANE Select	ENSP00000393887.2:p.Pro275Gln
ENST00000273784.5:c.827C>A	ENSP00000273784.5:p.Pro276Gln
ENST00000411641.6:c.824C>A	ENSP00000393887.2:p.Pro275Gln
NM_001622.2:c.824C>A	NP_001613.2:p.Pro275Gln
NM_001354571.1:c.827C>A	NP_001341500.1:p.Pro276Gln
NM_001354572.1:c.821C>A	NP_001341501.1:p.Pro274Gln
NM_001354573.1:c.740C>A	NP_001341502.1:p.Pro247Gln
NM_001622.3:c.824C>A	NP_001613.2:p.Pro275Gln
NM_001622.4:c.824C>A MANE Select	NP_001613.2:p.Pro275Gln
NM_001354571.2:c.827C>A	NP_001341500.1:p.Pro276Gln
NM_001354572.2:c.821C>A	NP_001341501.1:p.Pro274Gln
NM_001354573.2:c.740C>A	NP_001341502.1:p.Pro247Gln