Canonical Allele Identifier: CA2744824
Gene: AHSG HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186615763G>A
GRCh37 chr3:g.186333552G>A
Revel Score:
ENST00000411641 (MANE Select) 0.131
ENST00000541510 0.131
ENST00000273784 0.131
gnomAD v2:
3:186333552 G / A
gnomAD v3:
3:186615763 G / A
gnomAD v4:
chr3-186615763-G-A
Joint Max Group AF 0.00012738 (AMR)
Genomes Max Group AF 0.00021455 (AMR)
Exomes Max Group AF 0.00005804 (AMR)
ClinVar RCV:
RCV004298770
ClinVar Variation:
2527438
dbSNP:
544273449
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186615763G>A , CM000665.2:g.186615763G>A GRCh38
NC_000003.11:g.186333552G>A , CM000665.1:g.186333552G>A GRCh37
NC_000003.10:g.187816246G>A NCBI36
NG_011436.1:g.7703G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411641.7:c.292G>A MANE Select ENSP00000393887.2:p.Ala98Thr
ENST00000273784.5:c.292G>A ENSP00000273784.5:p.Ala98Thr
ENST00000411641.6:c.292G>A ENSP00000393887.2:p.Ala98Thr
ENST00000478441.1:n.349G>A
NM_001622.2:c.292G>A NP_001613.2:p.Ala98Thr
NM_001354571.1:c.292G>A NP_001341500.1:p.Ala98Thr
NM_001354572.1:c.289G>A NP_001341501.1:p.Ala97Thr
NM_001354573.1:c.292G>A NP_001341502.1:p.Ala98Thr
NM_001622.3:c.292G>A NP_001613.2:p.Ala98Thr
NM_001622.4:c.292G>A MANE Select NP_001613.2:p.Ala98Thr
NM_001354571.2:c.292G>A NP_001341500.1:p.Ala98Thr
NM_001354572.2:c.289G>A NP_001341501.1:p.Ala97Thr
NM_001354573.2:c.292G>A NP_001341502.1:p.Ala98Thr
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