Canonical Allele Identifier: CA3327786
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1774931
ClinVar RCV Id: RCV002403255 RCV003561013
dbSNP Id: rs766534747
ExAC: 5:79970818 C / G
gnomAD v2: 5-79970818-C-G
MyVariant Identifiers: chr5:g.79970818C>G (hg19) chr5:g.80674999C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80674999C>G , CM000667.2:g.80674999C>G GRCh38
NC_000005.9:g.79970818C>G , CM000667.1:g.79970818C>G GRCh37
NC_000005.8:g.80006574C>G NCBI36
NG_016607.1:g.25525C>G
NG_016607.2:g.25525C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1044C>G MANE Select ENSP00000265081.6:p.Ile348Met
ENST00000658259.1:c.876C>G ENSP00000499617.1:p.Ile292Met
ENST00000667069.1:c.1044C>G ENSP00000499502.1:p.Ile348Met
ENST00000670357.1:c.1044C>G ENSP00000499791.1:p.Ile348Met
ENST00000265081.6:c.1044C>G ENSP00000265081.6:p.Ile348Met
NM_002439.4:c.1044C>G NP_002430.3:p.Ile348Met
NM_002439.5:c.1044C>G MANE Select NP_002430.3:p.Ile348Met
Search 100 bp 5'
Search 100 bp 3'