Canonical Allele Identifier: CA445159710
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1981066
ClinVar RCV Id: RCV002751225
dbSNP Id: rs1444231656
gnomAD v2: 5-79970848-G-A
gnomAD v4: 5-80675029-G-A
MyVariant Identifiers: chr5:g.79970848G>A (hg19) chr5:g.80675029G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80675029G>A , CM000667.2:g.80675029G>A GRCh38
NC_000005.9:g.79970848G>A , CM000667.1:g.79970848G>A GRCh37
NC_000005.8:g.80006604G>A NCBI36
NG_016607.1:g.25555G>A
NG_016607.2:g.25555G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1074G>A MANE Select ENSP00000265081.6:p.Glu358=
ENST00000658259.1:c.906G>A ENSP00000499617.1:p.Glu302=
ENST00000667069.1:c.1074G>A ENSP00000499502.1:p.Glu358=
ENST00000670357.1:c.1074G>A ENSP00000499791.1:p.Glu358=
ENST00000265081.6:c.1074G>A ENSP00000265081.6:p.Glu358=
NM_002439.4:c.1074G>A NP_002430.3:p.Glu358=
NM_002439.5:c.1074G>A MANE Select NP_002430.3:p.Glu358=
Search 100 bp 5'
Search 100 bp 3'