Canonical Allele Identifier: CA360267923
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1512483
ClinVar RCV Id: RCV002045663 RCV002398107 RCV003464389
dbSNP Id: rs1749806720
MyVariant Identifiers: chr5:g.79970831G>A (hg19) chr5:g.80675012G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80675012G>A , CM000667.2:g.80675012G>A GRCh38
NC_000005.9:g.79970831G>A , CM000667.1:g.79970831G>A GRCh37
NC_000005.8:g.80006587G>A NCBI36
NG_016607.1:g.25538G>A
NG_016607.2:g.25538G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1057G>A MANE Select ENSP00000265081.6:p.Ala353Thr
ENST00000658259.1:c.889G>A ENSP00000499617.1:p.Ala297Thr
ENST00000667069.1:c.1057G>A ENSP00000499502.1:p.Ala353Thr
ENST00000670357.1:c.1057G>A ENSP00000499791.1:p.Ala353Thr
ENST00000265081.6:c.1057G>A ENSP00000265081.6:p.Ala353Thr
NM_002439.4:c.1057G>A NP_002430.3:p.Ala353Thr
NM_002439.5:c.1057G>A MANE Select NP_002430.3:p.Ala353Thr
Search 100 bp 5'
Search 100 bp 3'