Canonical Allele Identifier: CA346746013
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1044775
ClinVar RCV Id: RCV001349078

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799461A>C , CM000664.2:g.47799461A>C GRCh38
NC_000002.11:g.48026600A>C , CM000664.1:g.48026600A>C GRCh37
NC_000002.10:g.47880104A>C NCBI36
NG_007111.1:g.21315A>C , LRG_219:g.21315A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1478A>C MANE Select ENSP00000234420.5:p.Glu493Ala
ENST00000540021.6:c.1088A>C ENSP00000446475.1:p.Glu363Ala
ENST00000652107.1:c.1181A>C ENSP00000498629.1:p.Glu394Ala
ENST00000673637.1:c.1181A>C ENSP00000501310.1:p.Glu394Ala
ENST00000234420.9:c.1478A>C ENSP00000234420.4:p.Glu493Ala
ENST00000405808.5:c.169+8734T>G ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8533T>G ENSP00000402692.1:p.=
ENST00000445503.5:c.*825A>C ENSP00000405294.1:p.=
ENST00000538136.1:c.572A>C ENSP00000438580.1:p.Glu191Ala
ENST00000540021.5:c.1088A>C ENSP00000446475.1:p.Glu363Ala
ENST00000614496.4:c.572A>C ENSP00000477844.1:p.Glu191Ala
ENST00000616033.4:c.1475A>C ENSP00000480261.1:p.Glu492Ala
ENST00000622629.4:c.-1619A>C ENSP00000482078.1:p.=
NM_000179.2:c.1478A>C , LRG_219t1:c.1478A>C NP_000170.1:p.Glu493Ala
NM_001281492.1:c.1088A>C NP_001268421.1:p.Glu363Ala
NM_001281493.1:c.572A>C NP_001268422.1:p.Glu191Ala
NM_001281494.1:c.572A>C NP_001268423.1:p.Glu191Ala
XM_005264271.1:c.1181A>C XP_005264328.1:p.Glu394Ala
XM_011532798.1:c.1295A>C XP_011531100.1:p.Glu432Ala
XM_011532799.1:c.1181A>C XP_011531101.1:p.Glu394Ala
XM_011532800.1:c.1181A>C XP_011531102.1:p.Glu394Ala
XM_024452819.1:c.1478A>C XP_024308587.1:p.Glu493Ala
XM_024452820.1:c.1295A>C XP_024308588.1:p.Glu432Ala
XM_024452821.1:c.1181A>C XP_024308589.1:p.Glu394Ala
XM_024452822.1:c.572A>C XP_024308590.1:p.Glu191Ala
NM_000179.3:c.1478A>C MANE Select NP_000170.1:p.Glu493Ala
NM_001281492.2:c.1088A>C NP_001268421.1:p.Glu363Ala
NM_001281493.2:c.572A>C NP_001268422.1:p.Glu191Ala
NM_001281494.2:c.572A>C NP_001268423.1:p.Glu191Ala