Canonical Allele Identifier: CA355714451

Gene: AHSG

Linked Data

• gnomAD v4: 3-186618549-C-G
• MyVariant Identifiers: chr3:g.186336338C>G (hg19) ; chr3:g.186618549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186618549C>G , CM000665.2:g.186618549C>G	GRCh38
NC_000003.11:g.186336338C>G , CM000665.1:g.186336338C>G	GRCh37
NC_000003.10:g.187819032C>G	NCBI36
NG_011436.1:g.10489C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.587C>G MANE Select	ENSP00000393887.2:p.Ser196Cys
ENST00000273784.5:c.590C>G	ENSP00000273784.5:p.Ser197Cys
ENST00000411641.6:c.587C>G	ENSP00000393887.2:p.Ser196Cys
NM_001622.2:c.587C>G	NP_001613.2:p.Ser196Cys
NM_001354571.1:c.590C>G	NP_001341500.1:p.Ser197Cys
NM_001354572.1:c.584C>G	NP_001341501.1:p.Ser195Cys
NM_001354573.1:c.587C>G	NP_001341502.1:p.Ser196Cys
NM_001622.3:c.587C>G	NP_001613.2:p.Ser196Cys
NM_001622.4:c.587C>G MANE Select	NP_001613.2:p.Ser196Cys
NM_001354571.2:c.590C>G	NP_001341500.1:p.Ser197Cys
NM_001354572.2:c.584C>G	NP_001341501.1:p.Ser195Cys
NM_001354573.2:c.587C>G	NP_001341502.1:p.Ser196Cys