Canonical Allele Identifier: CA360267863
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010820
ClinVar RCV Id: RCV001308522 RCV002393734
dbSNP Id: rs1470780981
gnomAD v2: 5-79970816-A-G
gnomAD v4: 5-80674997-A-G
MyVariant Identifiers: chr5:g.79970816A>G (hg19) chr5:g.80674997A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80674997A>G , CM000667.2:g.80674997A>G GRCh38
NC_000005.9:g.79970816A>G , CM000667.1:g.79970816A>G GRCh37
NC_000005.8:g.80006572A>G NCBI36
NG_016607.1:g.25523A>G
NG_016607.2:g.25523A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1042A>G MANE Select ENSP00000265081.6:p.Ile348Val
ENST00000658259.1:c.874A>G ENSP00000499617.1:p.Ile292Val
ENST00000667069.1:c.1042A>G ENSP00000499502.1:p.Ile348Val
ENST00000670357.1:c.1042A>G ENSP00000499791.1:p.Ile348Val
ENST00000265081.6:c.1042A>G ENSP00000265081.6:p.Ile348Val
NM_002439.4:c.1042A>G NP_002430.3:p.Ile348Val
NM_002439.5:c.1042A>G MANE Select NP_002430.3:p.Ile348Val
Search 100 bp 5'
Search 100 bp 3'