Canonical Allele Identifier: CA11390341

Gene: AHSG

Linked Data

• ClinVar Variation Id: 16045
• ClinVar RCV Id: RCV000017420
• dbSNP Id: rs2593813
• gnomAD v2: 3-186332571-G-A
• gnomAD v3: 3-186614782-G-A
• gnomAD v4: 3-186614782-G-A
• MyVariant Identifiers: chr3:g.186332571G>A (hg19) ; chr3:g.186614782G>A (hg38)
• PubMed: PMID:15806395

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186614782G>A , CM000665.2:g.186614782G>A	GRCh38
NC_000003.11:g.186332571G>A , CM000665.1:g.186332571G>A	GRCh37
NC_000003.10:g.187815265G>A	NCBI36
NG_011436.1:g.6722G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411641.7:c.214-903G>A MANE Select	ENSP00000393887.2:n.214-903G>A
ENST00000273784.5:c.214-903G>A	ENSP00000273784.5:n.214-903G>A
ENST00000411641.6:c.214-903G>A	ENSP00000393887.2:n.214-903G>A
ENST00000478441.1:n.271-903G>A
NM_001622.2:c.214-903G>A	NP_001613.2:n.214-903G>A
NM_001354571.1:c.214-903G>A	NP_001341500.1:n.214-903G>A
NM_001354572.1:c.214-906G>A	NP_001341501.1:n.214-906G>A
NM_001354573.1:c.214-903G>A	NP_001341502.1:n.214-903G>A
NM_001622.3:c.214-903G>A	NP_001613.2:n.214-903G>A
NM_001622.4:c.214-903G>A MANE Select	NP_001613.2:n.214-903G>A
NM_001354571.2:c.214-903G>A	NP_001341500.1:n.214-903G>A
NM_001354572.2:c.214-906G>A	NP_001341501.1:n.214-906G>A
NM_001354573.2:c.214-903G>A	NP_001341502.1:n.214-903G>A