Canonical Allele Identifier: CA3327779
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2575432
ClinVar RCV Id: RCV003321007
dbSNP Id: rs749860215
ExAC: 5:79970775 T / C
gnomAD v2: 5-79970775-T-C
gnomAD v4: 5-80674956-T-C
MyVariant Identifiers: chr5:g.79970775T>C (hg19) chr5:g.80674956T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80674956T>C , CM000667.2:g.80674956T>C GRCh38
NC_000005.9:g.79970775T>C , CM000667.1:g.79970775T>C GRCh37
NC_000005.8:g.80006531T>C NCBI36
NG_016607.1:g.25482T>C
NG_016607.2:g.25482T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1028-27T>C MANE Select ENSP00000265081.6:n.1028-27T>C
ENST00000658259.1:c.860-27T>C ENSP00000499617.1:n.860-27T>C
ENST00000667069.1:c.1028-27T>C ENSP00000499502.1:n.1028-27T>C
ENST00000670357.1:c.1028-27T>C ENSP00000499791.1:n.1028-27T>C
ENST00000265081.6:c.1028-27T>C ENSP00000265081.6:n.1028-27T>C
NM_002439.4:c.1028-27T>C NP_002430.3:n.1028-27T>C
NM_002439.5:c.1028-27T>C MANE Select NP_002430.3:n.1028-27T>C
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