Canonical Allele Identifier: CA360267996
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022228
ClinVar RCV Id: RCV001322112
dbSNP Id: rs1749807412
MyVariant Identifiers: chr5:g.79970849A>C (hg19) chr5:g.80675030A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80675030A>C , CM000667.2:g.80675030A>C GRCh38
NC_000005.9:g.79970849A>C , CM000667.1:g.79970849A>C GRCh37
NC_000005.8:g.80006605A>C NCBI36
NG_016607.1:g.25556A>C
NG_016607.2:g.25556A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1075A>C MANE Select ENSP00000265081.6:p.Ile359Leu
ENST00000658259.1:c.907A>C ENSP00000499617.1:p.Ile303Leu
ENST00000667069.1:c.1075A>C ENSP00000499502.1:p.Ile359Leu
ENST00000670357.1:c.1075A>C ENSP00000499791.1:p.Ile359Leu
ENST00000265081.6:c.1075A>C ENSP00000265081.6:p.Ile359Leu
NM_002439.4:c.1075A>C NP_002430.3:p.Ile359Leu
NM_002439.5:c.1075A>C MANE Select NP_002430.3:p.Ile359Leu
Search 100 bp 5'
Search 100 bp 3'