Canonical Allele Identifier: CA360267847
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2586086
ClinVar RCV Id: RCV003358216
dbSNP Id: rs1180808858
gnomAD v2: 5-79970810-C-T
gnomAD v4: 5-80674991-C-T
MyVariant Identifiers: chr5:g.79970810C>T (hg19) chr5:g.80674991C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80674991C>T , CM000667.2:g.80674991C>T GRCh38
NC_000005.9:g.79970810C>T , CM000667.1:g.79970810C>T GRCh37
NC_000005.8:g.80006566C>T NCBI36
NG_016607.1:g.25517C>T
NG_016607.2:g.25517C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1036C>T MANE Select ENSP00000265081.6:p.Pro346Ser
ENST00000658259.1:c.868C>T ENSP00000499617.1:p.Pro290Ser
ENST00000667069.1:c.1036C>T ENSP00000499502.1:p.Pro346Ser
ENST00000670357.1:c.1036C>T ENSP00000499791.1:p.Pro346Ser
ENST00000265081.6:c.1036C>T ENSP00000265081.6:p.Pro346Ser
NM_002439.4:c.1036C>T NP_002430.3:p.Pro346Ser
NM_002439.5:c.1036C>T MANE Select NP_002430.3:p.Pro346Ser
Search 100 bp 5'
Search 100 bp 3'