Canonical Allele Identifier: CA360346804

Gene: MSH3

Linked Data

• MyVariant Identifiers: chr5:g.80168946C>A (hg19) ; chr5:g.80873127C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80873127C>A , CM000667.2:g.80873127C>A	GRCh38
NC_000005.9:g.80168946C>A , CM000667.1:g.80168946C>A	GRCh37
NC_000005.8:g.80204702C>A	NCBI36
NG_016607.1:g.223653C>A
NG_016607.2:g.223653C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265081.7:c.3142C>A MANE Select	ENSP00000265081.6:p.Gln1048Lys
ENST00000658259.1:c.2974C>A	ENSP00000499617.1:p.Gln992Lys
ENST00000659302.1:c.550C>A
ENST00000667069.1:c.2947C>A	ENSP00000499502.1:p.Gln983Lys
ENST00000670357.1:c.*466C>A	ENSP00000499791.1:n.*466C>A
ENST00000265081.6:c.3142C>A	ENSP00000265081.6:p.Gln1048Lys
NM_002439.4:c.3142C>A	NP_002430.3:p.Gln1048Lys
NM_002439.5:c.3142C>A MANE Select	NP_002430.3:p.Gln1048Lys