Canonical Allele Identifier: CA437357750

Gene: AHSG

Linked Data

• dbSNP Id: rs1560250711
• gnomAD v3: 3-186617887-T-G
• gnomAD v4: 3-186617887-T-G
• MyVariant Identifiers: chr3:g.186335676T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186617887T>G , CM000665.2:g.186617887T>G	GRCh38
NC_000003.11:g.186335676T>G , CM000665.1:g.186335676T>G	GRCh37
NC_000003.10:g.187818370T>G	NCBI36
NG_011436.1:g.9827T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.573+537T>G MANE Select	ENSP00000393887.2:n.573+537T>G
ENST00000273784.5:c.576+537T>G	ENSP00000273784.5:n.576+537T>G
ENST00000411641.6:c.573+537T>G	ENSP00000393887.2:n.573+537T>G
ENST00000478441.1:n.1167T>G
NM_001622.2:c.573+537T>G	NP_001613.2:n.573+537T>G
NM_001354571.1:c.576+537T>G	NP_001341500.1:n.576+537T>G
NM_001354572.1:c.570+537T>G	NP_001341501.1:n.570+537T>G
NM_001354573.1:c.573+537T>G	NP_001341502.1:n.573+537T>G
NM_001622.3:c.573+537T>G	NP_001613.2:n.573+537T>G
NM_001622.4:c.573+537T>G MANE Select	NP_001613.2:n.573+537T>G
NM_001354571.2:c.576+537T>G	NP_001341500.1:n.576+537T>G
NM_001354572.2:c.570+537T>G	NP_001341501.1:n.570+537T>G
NM_001354573.2:c.573+537T>G	NP_001341502.1:n.573+537T>G