Canonical Allele Identifier: CA121295069

Gene: MSH3

Linked Data

• dbSNP Id: rs940026025
• gnomAD v2: 5-79970738-T-C
• gnomAD v3: 5-80674919-T-C
• gnomAD v4: 5-80674919-T-C
• MyVariant Identifiers: chr5:g.79970738T>C (hg19) ; chr5:g.80674919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80674919T>C , CM000667.2:g.80674919T>C	GRCh38
NC_000005.9:g.79970738T>C , CM000667.1:g.79970738T>C	GRCh37
NC_000005.8:g.80006494T>C	NCBI36
NG_016607.1:g.25445T>C
NG_016607.2:g.25445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.1028-64T>C MANE Select	ENSP00000265081.6:n.1028-64T>C
ENST00000658259.1:c.860-64T>C	ENSP00000499617.1:n.860-64T>C
ENST00000667069.1:c.1028-64T>C	ENSP00000499502.1:n.1028-64T>C
ENST00000670357.1:c.1028-64T>C	ENSP00000499791.1:n.1028-64T>C
ENST00000265081.6:c.1028-64T>C	ENSP00000265081.6:n.1028-64T>C
NM_002439.4:c.1028-64T>C	NP_002430.3:n.1028-64T>C
NM_002439.5:c.1028-64T>C MANE Select	NP_002430.3:n.1028-64T>C