Canonical Allele Identifier: CA360267917
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384930
ClinVar RCV Id: RCV001902705 RCV004041344
dbSNP Id: rs2112815953
gnomAD v4: 5-80675010-A-G
MyVariant Identifiers: chr5:g.79970829A>G (hg19) chr5:g.80675010A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80675010A>G , CM000667.2:g.80675010A>G GRCh38
NC_000005.9:g.79970829A>G , CM000667.1:g.79970829A>G GRCh37
NC_000005.8:g.80006585A>G NCBI36
NG_016607.1:g.25536A>G
NG_016607.2:g.25536A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1055A>G MANE Select ENSP00000265081.6:p.Asp352Gly
ENST00000658259.1:c.887A>G ENSP00000499617.1:p.Asp296Gly
ENST00000667069.1:c.1055A>G ENSP00000499502.1:p.Asp352Gly
ENST00000670357.1:c.1055A>G ENSP00000499791.1:p.Asp352Gly
ENST00000265081.6:c.1055A>G ENSP00000265081.6:p.Asp352Gly
NM_002439.4:c.1055A>G NP_002430.3:p.Asp352Gly
NM_002439.5:c.1055A>G MANE Select NP_002430.3:p.Asp352Gly
Search 100 bp 5'
Search 100 bp 3'