Canonical Allele Identifier: CA2744972

Gene: AHSG

Linked Data

• dbSNP Id: rs762195916
• ExAC: 3:186336419 C / G
• gnomAD v2: 3-186336419-C-G
• gnomAD v4: 3-186618630-C-G
• MyVariant Identifiers: chr3:g.186336419C>G (hg19) ; chr3:g.186618630C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186618630C>G , CM000665.2:g.186618630C>G	GRCh38
NC_000003.11:g.186336419C>G , CM000665.1:g.186336419C>G	GRCh37
NC_000003.10:g.187819113C>G	NCBI36
NG_011436.1:g.10570C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.668C>G MANE Select	ENSP00000393887.2:p.Ala223Gly
ENST00000273784.5:c.671C>G	ENSP00000273784.5:p.Ala224Gly
ENST00000411641.6:c.668C>G	ENSP00000393887.2:p.Ala223Gly
NM_001622.2:c.668C>G	NP_001613.2:p.Ala223Gly
NM_001354571.1:c.671C>G	NP_001341500.1:p.Ala224Gly
NM_001354572.1:c.665C>G	NP_001341501.1:p.Ala222Gly
NM_001354573.1:c.668C>G	NP_001341502.1:p.Ala223Gly
NM_001622.3:c.668C>G	NP_001613.2:p.Ala223Gly
NM_001622.4:c.668C>G MANE Select	NP_001613.2:p.Ala223Gly
NM_001354571.2:c.671C>G	NP_001341500.1:p.Ala224Gly
NM_001354572.2:c.665C>G	NP_001341501.1:p.Ala222Gly
NM_001354573.2:c.668C>G	NP_001341502.1:p.Ala223Gly