Canonical Allele Identifier: CA10613588

Linked Data

ClinVar Variation Id: 336439
dbSNP Id: rs886056141

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47791005C>T , CM000664.2:g.47791005C>T GRCh38
NC_000002.11:g.48018144C>T , CM000664.1:g.48018144C>T GRCh37
NC_000002.10:g.47871648C>T NCBI36
NG_007111.1:g.12859C>T , LRG_219:g.12859C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.42C>T (MSH6) ENSP00000406248.2:p.His14=
ENST00000420813.6:c.42C>T (MSH6) ENSP00000390382.2:p.His14=
ENST00000455383.6:c.42C>T (MSH6) ENSP00000397484.2:p.His14=
ENST00000700004.2:c.339C>T (MSH6) ENSP00000514752.2:p.His113=
ENST00000699999.1:n.423C>T (MSH6)
ENST00000700000.1:c.339C>T (MSH6) ENSP00000514749.1:p.His113=
ENST00000700001.1:n.411C>T (MSH6)
ENST00000700002.1:c.339C>T (MSH6) ENSP00000514750.1:p.His113=
ENST00000700003.1:c.339C>T (MSH6) ENSP00000514751.1:p.His113=
ENST00000234420.11:c.339C>T (MSH6) MANE Select ENSP00000234420.5:p.His113=
ENST00000540021.6:c.237+7535C>T (MSH6) ENSP00000446475.1:n.237+7535C>T
ENST00000652107.1:c.42C>T (MSH6) ENSP00000498629.1:p.His14=
ENST00000673637.1:c.42C>T (MSH6) ENSP00000501310.1:p.His14=
ENST00000673922.1:n.349+7512C>T (MSH6)
ENST00000234420.9:c.339C>T (MSH6) ENSP00000234420.4:p.His113=
ENST00000405808.5:c.170-1565G>A (FBXO11) ENSP00000385127.1:n.170-1565G>A
ENST00000411819.1:c.42C>T (MSH6) ENSP00000406248.1:p.His14=
ENST00000420813.5:c.42C>T (MSH6) ENSP00000390382.1:p.His14=
ENST00000434234.5:c.*125-1565G>A (FBXO11) ENSP00000402692.1:n.*125-1565G>A
ENST00000445503.5:c.339C>T (MSH6) ENSP00000405294.1:p.His113=
ENST00000455383.5:c.42C>T (MSH6) ENSP00000397484.1:p.His14=
ENST00000456246.1:c.261-4889C>T (MSH6) ENSP00000410570.1:n.261-4889C>T
ENST00000538136.1:c.-564C>T (MSH6) ENSP00000438580.1:n.-564C>T
ENST00000540021.5:c.237+7535C>T (MSH6) ENSP00000446475.1:n.237+7535C>T
ENST00000606499.1:c.42C>T (MSH6) ENSP00000475605.1:p.His14=
ENST00000614496.4:c.-398C>T (MSH6) ENSP00000477844.1:n.-398C>T
ENST00000616033.4:c.336C>T (MSH6) ENSP00000480261.1:p.His112=
ENST00000622629.4:c.-2758C>T (MSH6) ENSP00000482078.1:n.-2758C>T
NM_000179.2:c.339C>T , LRG_219t1:c.339C>T (MSH6) NP_000170.1:p.His113=
NM_001281492.1:c.237+7535C>T (MSH6) NP_001268421.1:n.237+7535C>T
NM_001281493.1:c.-398C>T (MSH6) NP_001268422.1:n.-398C>T
NM_001281494.1:c.-564C>T (MSH6) NP_001268423.1:n.-564C>T
XM_005264271.1:c.42C>T (MSH6) XP_005264328.1:p.His14=
XM_011532798.1:c.156C>T (MSH6) XP_011531100.1:p.His52=
XM_011532799.1:c.42C>T (MSH6) XP_011531101.1:p.His14=
XM_011532800.1:c.42C>T (MSH6) XP_011531102.1:p.His14=
XM_024452819.1:c.339C>T (MSH6) XP_024308587.1:p.His113=
XM_024452820.1:c.156C>T (MSH6) XP_024308588.1:p.His52=
XM_024452821.1:c.42C>T (MSH6) XP_024308589.1:p.His14=
XM_024452822.1:c.-398C>T (MSH6) XP_024308590.1:n.-398C>T
NM_000179.3:c.339C>T (MSH6) MANE Select NP_000170.1:p.His113=
NM_001281492.2:c.237+7535C>T (MSH6) NP_001268421.1:n.237+7535C>T
NM_001281493.2:c.-398C>T (MSH6) NP_001268422.1:n.-398C>T
NM_001281494.2:c.-564C>T (MSH6) NP_001268423.1:n.-564C>T