Canonical Allele Identifier: CA360267814
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1475289
ClinVar RCV Id: RCV001976125
dbSNP Id: rs2112815906
gnomAD v4: 5-80674984-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80674984T>A , CM000667.2:g.80674984T>A GRCh38
NC_000005.9:g.79970803T>A , CM000667.1:g.79970803T>A GRCh37
NC_000005.8:g.80006559T>A NCBI36
NG_016607.1:g.25510T>A
NG_016607.2:g.25510T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1029T>A MANE Select ENSP00000265081.6:p.Asp343Glu
ENST00000658259.1:c.861T>A ENSP00000499617.1:p.Asp287Glu
ENST00000667069.1:c.1029T>A ENSP00000499502.1:p.Asp343Glu
ENST00000670357.1:c.1029T>A ENSP00000499791.1:p.Asp343Glu
ENST00000265081.6:c.1029T>A ENSP00000265081.6:p.Asp343Glu
NM_002439.4:c.1029T>A NP_002430.3:p.Asp343Glu
NM_002439.5:c.1029T>A MANE Select NP_002430.3:p.Asp343Glu