Canonical Allele Identifier: CA360268391
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1720340
ClinVar RCV Id: RCV002298105

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80675118T>G , CM000667.2:g.80675118T>G GRCh38
NC_000005.9:g.79970937T>G , CM000667.1:g.79970937T>G GRCh37
NC_000005.8:g.80006693T>G NCBI36
NG_016607.1:g.25644T>G
NG_016607.2:g.25644T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1163T>G MANE Select ENSP00000265081.6:p.Ile388Ser
ENST00000658259.1:c.995T>G ENSP00000499617.1:p.Ile332Ser
ENST00000667069.1:c.1163T>G ENSP00000499502.1:p.Ile388Ser
ENST00000670357.1:c.1163T>G ENSP00000499791.1:p.Ile388Ser
ENST00000265081.6:c.1163T>G ENSP00000265081.6:p.Ile388Ser
NM_002439.4:c.1163T>G NP_002430.3:p.Ile388Ser
NM_002439.5:c.1163T>G MANE Select NP_002430.3:p.Ile388Ser