Canonical Allele Identifier: CA355714585

Gene: AHSG

Linked Data

• dbSNP Id: rs775790259
• gnomAD v4: 3-186618614-A-G
• MyVariant Identifiers: chr3:g.186336403A>G (hg19) ; chr3:g.186618614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186618614A>G , CM000665.2:g.186618614A>G	GRCh38
NC_000003.11:g.186336403A>G , CM000665.1:g.186336403A>G	GRCh37
NC_000003.10:g.187819097A>G	NCBI36
NG_011436.1:g.10554A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.652A>G MANE Select	ENSP00000393887.2:p.Lys218Glu
ENST00000273784.5:c.655A>G	ENSP00000273784.5:p.Lys219Glu
ENST00000411641.6:c.652A>G	ENSP00000393887.2:p.Lys218Glu
NM_001622.2:c.652A>G	NP_001613.2:p.Lys218Glu
NM_001354571.1:c.655A>G	NP_001341500.1:p.Lys219Glu
NM_001354572.1:c.649A>G	NP_001341501.1:p.Lys217Glu
NM_001354573.1:c.652A>G	NP_001341502.1:p.Lys218Glu
NM_001622.3:c.652A>G	NP_001613.2:p.Lys218Glu
NM_001622.4:c.652A>G MANE Select	NP_001613.2:p.Lys218Glu
NM_001354571.2:c.655A>G	NP_001341500.1:p.Lys219Glu
NM_001354572.2:c.649A>G	NP_001341501.1:p.Lys217Glu
NM_001354573.2:c.652A>G	NP_001341502.1:p.Lys218Glu