Canonical Allele Identifier: CA360267911
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1019266
ClinVar RCV Id: RCV001318683
dbSNP Id: rs1749806669
MyVariant Identifiers: chr5:g.79970828G>C (hg19) chr5:g.80675009G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80675009G>C , CM000667.2:g.80675009G>C GRCh38
NC_000005.9:g.79970828G>C , CM000667.1:g.79970828G>C GRCh37
NC_000005.8:g.80006584G>C NCBI36
NG_016607.1:g.25535G>C
NG_016607.2:g.25535G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1054G>C MANE Select ENSP00000265081.6:p.Asp352His
ENST00000658259.1:c.886G>C ENSP00000499617.1:p.Asp296His
ENST00000667069.1:c.1054G>C ENSP00000499502.1:p.Asp352His
ENST00000670357.1:c.1054G>C ENSP00000499791.1:p.Asp352His
ENST00000265081.6:c.1054G>C ENSP00000265081.6:p.Asp352His
NM_002439.4:c.1054G>C NP_002430.3:p.Asp352His
NM_002439.5:c.1054G>C MANE Select NP_002430.3:p.Asp352His
Search 100 bp 5'
Search 100 bp 3'