Canonical Allele Identifier: CA360346787

Gene: MSH3

Linked Data

• ClinVar Variation Id: 1727990
• ClinVar RCV Id: RCV002320622
• gnomAD v4: 5-80873118-G-T
• MyVariant Identifiers: chr5:g.80168937G>T (hg19) ; chr5:g.80873118G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80873118G>T , CM000667.2:g.80873118G>T	GRCh38
NC_000005.9:g.80168937G>T , CM000667.1:g.80168937G>T	GRCh37
NC_000005.8:g.80204693G>T	NCBI36
NG_016607.1:g.223644G>T
NG_016607.2:g.223644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.3133G>T MANE Select	ENSP00000265081.6:p.Ala1045Ser
ENST00000658259.1:c.2965G>T	ENSP00000499617.1:p.Ala989Ser
ENST00000659302.1:c.541G>T
ENST00000667069.1:c.2938G>T	ENSP00000499502.1:p.Ala980Ser
ENST00000670357.1:c.*457G>T	ENSP00000499791.1:n.*457G>T
ENST00000265081.6:c.3133G>T	ENSP00000265081.6:p.Ala1045Ser
NM_002439.4:c.3133G>T	NP_002430.3:p.Ala1045Ser
NM_002439.5:c.3133G>T MANE Select	NP_002430.3:p.Ala1045Ser