Canonical Allele Identifier: CA445225419
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1671053
dbSNP Id: rs2112128571
MyVariant Identifiers: chr5:g.80168939A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80873120A>G , CM000667.2:g.80873120A>G GRCh38
NC_000005.9:g.80168939A>G , CM000667.1:g.80168939A>G GRCh37
NC_000005.8:g.80204695A>G NCBI36
NG_016607.1:g.223646A>G
NG_016607.2:g.223646A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265081.7:c.3135A>G MANE Select ENSP00000265081.6:p.Ala1045=
ENST00000658259.1:c.2967A>G ENSP00000499617.1:p.Ala989=
ENST00000659302.1:c.543A>G
ENST00000667069.1:c.2940A>G ENSP00000499502.1:p.Ala980=
ENST00000670357.1:c.*459A>G ENSP00000499791.1:n.*459A>G
ENST00000265081.6:c.3135A>G ENSP00000265081.6:p.Ala1045=
NM_002439.4:c.3135A>G NP_002430.3:p.Ala1045=
NM_002439.5:c.3135A>G MANE Select NP_002430.3:p.Ala1045=