Canonical Allele Identifier: CA2745077
Gene: AHSG HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186620776G>A
GRCh37 chr3:g.186338565G>A
Revel Score:
ENST00000411641 (MANE Select) 0.155
ENST00000541510 0.155
ENST00000273784 0.155
gnomAD v2:
3:186338565 G / A
gnomAD v3:
3:186620776 G / A
gnomAD v4:
chr3-186620776-G-A
Joint Max Group AF 0.00022777 (SAS)
Genomes Max Group AF 0.0001691 (SAS)
Exomes Max Group AF 0.00021109 (SAS)
ClinVar RCV:
RCV000578120
ClinVar Variation:
488189
dbSNP:
201849460
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186620776G>A , CM000665.2:g.186620776G>A GRCh38
NC_000003.11:g.186338565G>A , CM000665.1:g.186338565G>A GRCh37
NC_000003.10:g.187821259G>A NCBI36
NG_011436.1:g.12716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.950G>A MANE Select ENSP00000393887.2:p.Arg317His
ENST00000273784.5:c.953G>A ENSP00000273784.5:p.Arg318His
ENST00000411641.6:c.950G>A ENSP00000393887.2:p.Arg317His
NM_001622.2:c.950G>A NP_001613.2:p.Arg317His
NM_001354571.1:c.953G>A NP_001341500.1:p.Arg318His
NM_001354572.1:c.947G>A NP_001341501.1:p.Arg316His
NM_001354573.1:c.866G>A NP_001341502.1:p.Arg289His
NM_001622.3:c.950G>A NP_001613.2:p.Arg317His
NM_001622.4:c.950G>A MANE Select NP_001613.2:p.Arg317His
NM_001354571.2:c.953G>A NP_001341500.1:p.Arg318His
NM_001354572.2:c.947G>A NP_001341501.1:p.Arg316His
NM_001354573.2:c.866G>A NP_001341502.1:p.Arg289His
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