Canonical Allele Identifier: CA068191
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 224580
dbSNP Id: rs772363120

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799830C>G , CM000664.2:g.47799830C>G GRCh38
NC_000002.11:g.48026969C>G , CM000664.1:g.48026969C>G GRCh37
NC_000002.10:g.47880473C>G NCBI36
NG_007111.1:g.21684C>G , LRG_219:g.21684C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1847C>G MANE Select ENSP00000234420.5:p.Ser616Cys
ENST00000540021.6:c.1457C>G ENSP00000446475.1:p.Ser486Cys
ENST00000652107.1:c.1550C>G ENSP00000498629.1:p.Ser517Cys
ENST00000673637.1:c.1550C>G ENSP00000501310.1:p.Ser517Cys
ENST00000234420.9:c.1847C>G ENSP00000234420.4:p.Ser616Cys
ENST00000405808.5:c.169+8365G>C ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8164G>C ENSP00000402692.1:p.=
ENST00000445503.5:c.*1194C>G ENSP00000405294.1:p.=
ENST00000538136.1:c.941C>G ENSP00000438580.1:p.Ser314Cys
ENST00000540021.5:c.1457C>G ENSP00000446475.1:p.Ser486Cys
ENST00000614496.4:c.941C>G ENSP00000477844.1:p.Ser314Cys
ENST00000616033.4:c.1844C>G ENSP00000480261.1:p.Ser615Cys
ENST00000622629.4:c.-1250C>G ENSP00000482078.1:p.=
NM_000179.2:c.1847C>G , LRG_219t1:c.1847C>G NP_000170.1:p.Ser616Cys
NM_001281492.1:c.1457C>G NP_001268421.1:p.Ser486Cys
NM_001281493.1:c.941C>G NP_001268422.1:p.Ser314Cys
NM_001281494.1:c.941C>G NP_001268423.1:p.Ser314Cys
XM_005264271.1:c.1550C>G XP_005264328.1:p.Ser517Cys
XM_011532798.1:c.1664C>G XP_011531100.1:p.Ser555Cys
XM_011532799.1:c.1550C>G XP_011531101.1:p.Ser517Cys
XM_011532800.1:c.1550C>G XP_011531102.1:p.Ser517Cys
XM_024452819.1:c.1847C>G XP_024308587.1:p.Ser616Cys
XM_024452820.1:c.1664C>G XP_024308588.1:p.Ser555Cys
XM_024452821.1:c.1550C>G XP_024308589.1:p.Ser517Cys
XM_024452822.1:c.941C>G XP_024308590.1:p.Ser314Cys
NM_000179.3:c.1847C>G MANE Select NP_000170.1:p.Ser616Cys
NM_001281492.2:c.1457C>G NP_001268421.1:p.Ser486Cys
NM_001281493.2:c.941C>G NP_001268422.1:p.Ser314Cys
NM_001281494.2:c.941C>G NP_001268423.1:p.Ser314Cys