Canonical Allele Identifier: CA360267891

Gene: MSH3

Linked Data

• ClinVar Variation Id: 1719776
• ClinVar RCV Id: RCV002305022
• dbSNP Id: rs2112815943
• MyVariant Identifiers: chr5:g.79970822C>G (hg19) ; chr5:g.80675003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80675003C>G , CM000667.2:g.80675003C>G	GRCh38
NC_000005.9:g.79970822C>G , CM000667.1:g.79970822C>G	GRCh37
NC_000005.8:g.80006578C>G	NCBI36
NG_016607.1:g.25529C>G
NG_016607.2:g.25529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.1048C>G MANE Select	ENSP00000265081.6:p.Leu350Val
ENST00000658259.1:c.880C>G	ENSP00000499617.1:p.Leu294Val
ENST00000667069.1:c.1048C>G	ENSP00000499502.1:p.Leu350Val
ENST00000670357.1:c.1048C>G	ENSP00000499791.1:p.Leu350Val
ENST00000265081.6:c.1048C>G	ENSP00000265081.6:p.Leu350Val
NM_002439.4:c.1048C>G	NP_002430.3:p.Leu350Val
NM_002439.5:c.1048C>G MANE Select	NP_002430.3:p.Leu350Val