Canonical Allele Identifier: CA2745028

Gene: AHSG

Linked Data

• dbSNP Id: rs193283773
• ExAC: 3:186338341 G / A
• gnomAD v2: 3-186338341-G-A
• gnomAD v3: 3-186620552-G-A
• gnomAD v4: 3-186620552-G-A
• MyVariant Identifiers: chr3:g.186338341G>A (hg19) ; chr3:g.186620552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186620552G>A , CM000665.2:g.186620552G>A	GRCh38
NC_000003.11:g.186338341G>A , CM000665.1:g.186338341G>A	GRCh37
NC_000003.10:g.187821035G>A	NCBI36
NG_011436.1:g.12492G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411641.7:c.760-34G>A MANE Select	ENSP00000393887.2:n.760-34G>A
ENST00000273784.5:c.763-34G>A	ENSP00000273784.5:n.763-34G>A
ENST00000411641.6:c.760-34G>A	ENSP00000393887.2:n.760-34G>A
NM_001622.2:c.760-34G>A	NP_001613.2:n.760-34G>A
NM_001354571.1:c.763-34G>A	NP_001341500.1:n.763-34G>A
NM_001354572.1:c.757-34G>A	NP_001341501.1:n.757-34G>A
NM_001354573.1:c.676-34G>A	NP_001341502.1:n.676-34G>A
NM_001622.3:c.760-34G>A	NP_001613.2:n.760-34G>A
NM_001622.4:c.760-34G>A MANE Select	NP_001613.2:n.760-34G>A
NM_001354571.2:c.763-34G>A	NP_001341500.1:n.763-34G>A
NM_001354572.2:c.757-34G>A	NP_001341501.1:n.757-34G>A
NM_001354573.2:c.676-34G>A	NP_001341502.1:n.676-34G>A