Canonical Allele Identifier: CA360346795
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 662495
ClinVar RCV Id: RCV000820151 RCV002325615
dbSNP Id: rs1580104275
gnomAD v4: 5-80873122-C-T
MyVariant Identifiers: chr5:g.80168941C>T (hg19) chr5:g.80873122C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80873122C>T , CM000667.2:g.80873122C>T GRCh38
NC_000005.9:g.80168941C>T , CM000667.1:g.80168941C>T GRCh37
NC_000005.8:g.80204697C>T NCBI36
NG_016607.1:g.223648C>T
NG_016607.2:g.223648C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.3137C>T MANE Select ENSP00000265081.6:p.Ala1046Val
ENST00000658259.1:c.2969C>T ENSP00000499617.1:p.Ala990Val
ENST00000659302.1:c.545C>T
ENST00000667069.1:c.2942C>T ENSP00000499502.1:p.Ala981Val
ENST00000670357.1:c.*461C>T ENSP00000499791.1:n.*461C>T
ENST00000265081.6:c.3137C>T ENSP00000265081.6:p.Ala1046Val
NM_002439.4:c.3137C>T NP_002430.3:p.Ala1046Val
NM_002439.5:c.3137C>T MANE Select NP_002430.3:p.Ala1046Val
Search 100 bp 5'
Search 100 bp 3'