Canonical Allele Identifier: CA3328468
Gene: MSH3 HGNC NCBI
COSMIC:
COSM4416274 (not active)
COSM4416275 (not active)
MyVariant.info:
GRCh38 chr5:g.80873118G>A
GRCh37 chr5:g.80168937G>A
Revel Score:
ENST00000265081 (MANE Select) 0.108
ENST00000535995 0.108
gnomAD v2:
5:80168937 G / A
gnomAD v3:
5:80873118 G / A
gnomAD v4:
chr5-80873118-G-A
Joint Max Group AF 0.79036266 (SAS)
Genomes Max Group AF 0.77679307 (SAS)
Exomes Max Group AF 0.79008287 (SAS)
ClinVar RCV:
RCV001018762
RCV001520312
ClinVar Variation:
822964
dbSNP:
26279
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80873118G>A , CM000667.2:g.80873118G>A GRCh38
NC_000005.9:g.80168937G>A , CM000667.1:g.80168937G>A GRCh37
NC_000005.8:g.80204693G>A NCBI36
NG_016607.1:g.223644G>A
NG_016607.2:g.223644G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.3133G>A MANE Select ENSP00000265081.6:p.Ala1045Thr
ENST00000658259.1:c.2965G>A ENSP00000499617.1:p.Ala989Thr
ENST00000659302.1:c.541G>A
ENST00000667069.1:c.2938G>A ENSP00000499502.1:p.Ala980Thr
ENST00000670357.1:c.*457G>A ENSP00000499791.1:n.*457G>A
ENST00000265081.6:c.3133G>A ENSP00000265081.6:p.Ala1045Thr
NM_002439.4:c.3133G>A NP_002430.3:p.Ala1045Thr
NM_002439.5:c.3133G>A MANE Select NP_002430.3:p.Ala1045Thr
Search 100 bp 5'
Search 100 bp 3'