Canonical Allele Identifier: CA355714606

Gene: AHSG

Linked Data

• dbSNP Id: rs1338273673
• gnomAD v2: 3-186336412-C-G
• gnomAD v4: 3-186618623-C-G
• MyVariant Identifiers: chr3:g.186336412C>G (hg19) ; chr3:g.186618623C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186618623C>G , CM000665.2:g.186618623C>G	GRCh38
NC_000003.11:g.186336412C>G , CM000665.1:g.186336412C>G	GRCh37
NC_000003.10:g.187819106C>G	NCBI36
NG_011436.1:g.10563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.661C>G MANE Select	ENSP00000393887.2:p.Leu221Val
ENST00000273784.5:c.664C>G	ENSP00000273784.5:p.Leu222Val
ENST00000411641.6:c.661C>G	ENSP00000393887.2:p.Leu221Val
NM_001622.2:c.661C>G	NP_001613.2:p.Leu221Val
NM_001354571.1:c.664C>G	NP_001341500.1:p.Leu222Val
NM_001354572.1:c.658C>G	NP_001341501.1:p.Leu220Val
NM_001354573.1:c.661C>G	NP_001341502.1:p.Leu221Val
NM_001622.3:c.661C>G	NP_001613.2:p.Leu221Val
NM_001622.4:c.661C>G MANE Select	NP_001613.2:p.Leu221Val
NM_001354571.2:c.664C>G	NP_001341500.1:p.Leu222Val
NM_001354572.2:c.658C>G	NP_001341501.1:p.Leu220Val
NM_001354573.2:c.661C>G	NP_001341502.1:p.Leu221Val