Canonical Allele Identifier: CA346746043
Gene: MSH6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799464C>A , CM000664.2:g.47799464C>A GRCh38
NC_000002.11:g.48026603C>A , CM000664.1:g.48026603C>A GRCh37
NC_000002.10:g.47880107C>A NCBI36
NG_007111.1:g.21318C>A , LRG_219:g.21318C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1481C>A MANE Select ENSP00000234420.5:p.Ala494Glu
ENST00000540021.6:c.1091C>A ENSP00000446475.1:p.Ala364Glu
ENST00000652107.1:c.1184C>A ENSP00000498629.1:p.Ala395Glu
ENST00000673637.1:c.1184C>A ENSP00000501310.1:p.Ala395Glu
ENST00000234420.9:c.1481C>A ENSP00000234420.4:p.Ala494Glu
ENST00000405808.5:c.169+8731G>T ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8530G>T ENSP00000402692.1:p.=
ENST00000445503.5:c.*828C>A ENSP00000405294.1:p.=
ENST00000538136.1:c.575C>A ENSP00000438580.1:p.Ala192Glu
ENST00000540021.5:c.1091C>A ENSP00000446475.1:p.Ala364Glu
ENST00000614496.4:c.575C>A ENSP00000477844.1:p.Ala192Glu
ENST00000616033.4:c.1478C>A ENSP00000480261.1:p.Ala493Glu
ENST00000622629.4:c.-1616C>A ENSP00000482078.1:p.=
NM_000179.2:c.1481C>A , LRG_219t1:c.1481C>A NP_000170.1:p.Ala494Glu
NM_001281492.1:c.1091C>A NP_001268421.1:p.Ala364Glu
NM_001281493.1:c.575C>A NP_001268422.1:p.Ala192Glu
NM_001281494.1:c.575C>A NP_001268423.1:p.Ala192Glu
XM_005264271.1:c.1184C>A XP_005264328.1:p.Ala395Glu
XM_011532798.1:c.1298C>A XP_011531100.1:p.Ala433Glu
XM_011532799.1:c.1184C>A XP_011531101.1:p.Ala395Glu
XM_011532800.1:c.1184C>A XP_011531102.1:p.Ala395Glu
XM_024452819.1:c.1481C>A XP_024308587.1:p.Ala494Glu
XM_024452820.1:c.1298C>A XP_024308588.1:p.Ala433Glu
XM_024452821.1:c.1184C>A XP_024308589.1:p.Ala395Glu
XM_024452822.1:c.575C>A XP_024308590.1:p.Ala192Glu
NM_000179.3:c.1481C>A MANE Select NP_000170.1:p.Ala494Glu
NM_001281492.2:c.1091C>A NP_001268421.1:p.Ala364Glu
NM_001281493.2:c.575C>A NP_001268422.1:p.Ala192Glu
NM_001281494.2:c.575C>A NP_001268423.1:p.Ala192Glu