Canonical Allele Identifier: CA360267850
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 837350
ClinVar RCV Id: RCV001038663 RCV002391104
dbSNP Id: rs773569755
gnomAD v4: 5-80674992-C-T
MyVariant Identifiers: chr5:g.79970811C>T (hg19) chr5:g.80674992C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80674992C>T , CM000667.2:g.80674992C>T GRCh38
NC_000005.9:g.79970811C>T , CM000667.1:g.79970811C>T GRCh37
NC_000005.8:g.80006567C>T NCBI36
NG_016607.1:g.25518C>T
NG_016607.2:g.25518C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1037C>T MANE Select ENSP00000265081.6:p.Pro346Leu
ENST00000658259.1:c.869C>T ENSP00000499617.1:p.Pro290Leu
ENST00000667069.1:c.1037C>T ENSP00000499502.1:p.Pro346Leu
ENST00000670357.1:c.1037C>T ENSP00000499791.1:p.Pro346Leu
ENST00000265081.6:c.1037C>T ENSP00000265081.6:p.Pro346Leu
NM_002439.4:c.1037C>T NP_002430.3:p.Pro346Leu
NM_002439.5:c.1037C>T MANE Select NP_002430.3:p.Pro346Leu
Search 100 bp 5'
Search 100 bp 3'