Canonical Allele Identifier: CA360346790

Gene: MSH3

Linked Data

• gnomAD v4: 5-80873119-C-T
• MyVariant Identifiers: chr5:g.80168938C>T (hg19) ; chr5:g.80873119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80873119C>T , CM000667.2:g.80873119C>T	GRCh38
NC_000005.9:g.80168938C>T , CM000667.1:g.80168938C>T	GRCh37
NC_000005.8:g.80204694C>T	NCBI36
NG_016607.1:g.223645C>T
NG_016607.2:g.223645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.3134C>T MANE Select	ENSP00000265081.6:p.Ala1045Val
ENST00000658259.1:c.2966C>T	ENSP00000499617.1:p.Ala989Val
ENST00000659302.1:c.542C>T
ENST00000667069.1:c.2939C>T	ENSP00000499502.1:p.Ala980Val
ENST00000670357.1:c.*458C>T	ENSP00000499791.1:n.*458C>T
ENST00000265081.6:c.3134C>T	ENSP00000265081.6:p.Ala1045Val
NM_002439.4:c.3134C>T	NP_002430.3:p.Ala1045Val
NM_002439.5:c.3134C>T MANE Select	NP_002430.3:p.Ala1045Val