Canonical Allele Identifier: CA346745012
Gene: MSH6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799366T>G , CM000664.2:g.47799366T>G GRCh38
NC_000002.11:g.48026505T>G , CM000664.1:g.48026505T>G GRCh37
NC_000002.10:g.47880009T>G NCBI36
NG_007111.1:g.21220T>G , LRG_219:g.21220T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1383T>G MANE Select ENSP00000234420.5:p.Phe461Leu
ENST00000540021.6:c.993T>G ENSP00000446475.1:p.Phe331Leu
ENST00000652107.1:c.1086T>G ENSP00000498629.1:p.Phe362Leu
ENST00000673637.1:c.1086T>G ENSP00000501310.1:p.Phe362Leu
ENST00000234420.9:c.1383T>G ENSP00000234420.4:p.Phe461Leu
ENST00000405808.5:c.169+8829A>C ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8628A>C ENSP00000402692.1:p.=
ENST00000445503.5:c.*730T>G ENSP00000405294.1:p.=
ENST00000538136.1:c.477T>G ENSP00000438580.1:p.Phe159Leu
ENST00000540021.5:c.993T>G ENSP00000446475.1:p.Phe331Leu
ENST00000614496.4:c.477T>G ENSP00000477844.1:p.Phe159Leu
ENST00000616033.4:c.1380T>G ENSP00000480261.1:p.Phe460Leu
ENST00000622629.4:c.-1714T>G ENSP00000482078.1:p.=
NM_000179.2:c.1383T>G , LRG_219t1:c.1383T>G NP_000170.1:p.Phe461Leu
NM_001281492.1:c.993T>G NP_001268421.1:p.Phe331Leu
NM_001281493.1:c.477T>G NP_001268422.1:p.Phe159Leu
NM_001281494.1:c.477T>G NP_001268423.1:p.Phe159Leu
XM_005264271.1:c.1086T>G XP_005264328.1:p.Phe362Leu
XM_011532798.1:c.1200T>G XP_011531100.1:p.Phe400Leu
XM_011532799.1:c.1086T>G XP_011531101.1:p.Phe362Leu
XM_011532800.1:c.1086T>G XP_011531102.1:p.Phe362Leu
XM_024452819.1:c.1383T>G XP_024308587.1:p.Phe461Leu
XM_024452820.1:c.1200T>G XP_024308588.1:p.Phe400Leu
XM_024452821.1:c.1086T>G XP_024308589.1:p.Phe362Leu
XM_024452822.1:c.477T>G XP_024308590.1:p.Phe159Leu
NM_000179.3:c.1383T>G MANE Select NP_000170.1:p.Phe461Leu
NM_001281492.2:c.993T>G NP_001268421.1:p.Phe331Leu
NM_001281493.2:c.477T>G NP_001268422.1:p.Phe159Leu
NM_001281494.2:c.477T>G NP_001268423.1:p.Phe159Leu