Canonical Allele Identifier: CA360267978
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 943710
dbSNP Id: rs780963280
gnomAD v2: 5-79970845-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80675026T>A , CM000667.2:g.80675026T>A GRCh38
NC_000005.9:g.79970845T>A , CM000667.1:g.79970845T>A GRCh37
NC_000005.8:g.80006601T>A NCBI36
NG_016607.1:g.25552T>A
NG_016607.2:g.25552T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1071T>A MANE Select ENSP00000265081.6:p.Asp357Glu
ENST00000658259.1:c.903T>A ENSP00000499617.1:p.Asp301Glu
ENST00000667069.1:c.1071T>A ENSP00000499502.1:p.Asp357Glu
ENST00000670357.1:c.1071T>A ENSP00000499791.1:p.Asp357Glu
ENST00000265081.6:c.1071T>A ENSP00000265081.6:p.Asp357Glu
NM_002439.4:c.1071T>A NP_002430.3:p.Asp357Glu
NM_002439.5:c.1071T>A MANE Select NP_002430.3:p.Asp357Glu