Canonical Allele Identifier: CA360346811

Gene: MSH3

Linked Data

• MyVariant Identifiers: chr5:g.80168948A>C (hg19) ; chr5:g.80873129A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80873129A>C , CM000667.2:g.80873129A>C	GRCh38
NC_000005.9:g.80168948A>C , CM000667.1:g.80168948A>C	GRCh37
NC_000005.8:g.80204704A>C	NCBI36
NG_016607.1:g.223655A>C
NG_016607.2:g.223655A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265081.7:c.3144A>C MANE Select	ENSP00000265081.6:p.Gln1048His
ENST00000658259.1:c.2976A>C	ENSP00000499617.1:p.Gln992His
ENST00000659302.1:c.552A>C
ENST00000667069.1:c.2949A>C	ENSP00000499502.1:p.Gln983His
ENST00000670357.1:c.*468A>C	ENSP00000499791.1:n.*468A>C
ENST00000265081.6:c.3144A>C	ENSP00000265081.6:p.Gln1048His
NM_002439.4:c.3144A>C	NP_002430.3:p.Gln1048His
NM_002439.5:c.3144A>C MANE Select	NP_002430.3:p.Gln1048His