Canonical Allele Identifier: CA548454332

Gene: AHSG

Linked Data

• dbSNP Id: rs1245279107
• gnomAD v2: 3-186335644-G-A
• gnomAD v3: 3-186617855-G-A
• gnomAD v4: 3-186617855-G-A
• MyVariant Identifiers: chr3:g.186335644G>A (hg19) ; chr3:g.186617855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186617855G>A , CM000665.2:g.186617855G>A	GRCh38
NC_000003.11:g.186335644G>A , CM000665.1:g.186335644G>A	GRCh37
NC_000003.10:g.187818338G>A	NCBI36
NG_011436.1:g.9795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.573+505G>A MANE Select	ENSP00000393887.2:n.573+505G>A
ENST00000273784.5:c.576+505G>A	ENSP00000273784.5:n.576+505G>A
ENST00000411641.6:c.573+505G>A	ENSP00000393887.2:n.573+505G>A
ENST00000478441.1:n.1135G>A
NM_001622.2:c.573+505G>A	NP_001613.2:n.573+505G>A
NM_001354571.1:c.576+505G>A	NP_001341500.1:n.576+505G>A
NM_001354572.1:c.570+505G>A	NP_001341501.1:n.570+505G>A
NM_001354573.1:c.573+505G>A	NP_001341502.1:n.573+505G>A
NM_001622.3:c.573+505G>A	NP_001613.2:n.573+505G>A
NM_001622.4:c.573+505G>A MANE Select	NP_001613.2:n.573+505G>A
NM_001354571.2:c.576+505G>A	NP_001341500.1:n.576+505G>A
NM_001354572.2:c.570+505G>A	NP_001341501.1:n.570+505G>A
NM_001354573.2:c.573+505G>A	NP_001341502.1:n.573+505G>A