Canonical Allele Identifier: CA360267858

Gene: MSH3

Linked Data

• ClinVar Variation Id: 2013867
• ClinVar RCV Id: RCV002856610
• gnomAD v4: 5-80674995-T-C
• MyVariant Identifiers: chr5:g.79970814T>C (hg19) ; chr5:g.80674995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80674995T>C , CM000667.2:g.80674995T>C	GRCh38
NC_000005.9:g.79970814T>C , CM000667.1:g.79970814T>C	GRCh37
NC_000005.8:g.80006570T>C	NCBI36
NG_016607.1:g.25521T>C
NG_016607.2:g.25521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.1040T>C MANE Select	ENSP00000265081.6:p.Leu347Pro
ENST00000658259.1:c.872T>C	ENSP00000499617.1:p.Leu291Pro
ENST00000667069.1:c.1040T>C	ENSP00000499502.1:p.Leu347Pro
ENST00000670357.1:c.1040T>C	ENSP00000499791.1:p.Leu347Pro
ENST00000265081.6:c.1040T>C	ENSP00000265081.6:p.Leu347Pro
NM_002439.4:c.1040T>C	NP_002430.3:p.Leu347Pro
NM_002439.5:c.1040T>C MANE Select	NP_002430.3:p.Leu347Pro