Canonical Allele Identifier: CA2496048722
Gene: MSH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799466C= , CM000664.2:g.47799466C= GRCh38
NC_000002.11:g.48026605C= , CM000664.1:g.48026605C= GRCh37
NC_000002.10:g.47880109C= NCBI36
NG_007111.1:g.21320C= , LRG_219:g.21320C=

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1483C= MANE Select ENSP00000234420.5:p.Arg495=
ENST00000540021.6:c.1093C= ENSP00000446475.1:p.Arg365=
ENST00000652107.1:c.1186C= ENSP00000498629.1:p.Arg396=
ENST00000673637.1:c.1186C= ENSP00000501310.1:p.Arg396=
ENST00000234420.9:c.1483C= ENSP00000234420.4:p.Arg495=
ENST00000405808.5:c.169+8729G= ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8528G= ENSP00000402692.1:p.=
ENST00000445503.5:c.*830C= ENSP00000405294.1:p.=
ENST00000538136.1:c.577C= ENSP00000438580.1:p.Arg193=
ENST00000540021.5:c.1093C= ENSP00000446475.1:p.Arg365=
ENST00000614496.4:c.577C= ENSP00000477844.1:p.Arg193=
ENST00000616033.4:c.1480C= ENSP00000480261.1:p.Arg494=
ENST00000622629.4:c.-1614C= ENSP00000482078.1:p.=
NM_000179.2:c.1483C= , LRG_219t1:c.1483C= NP_000170.1:p.Arg495=
NM_001281492.1:c.1093C= NP_001268421.1:p.Arg365=
NM_001281493.1:c.577C= NP_001268422.1:p.Arg193=
NM_001281494.1:c.577C= NP_001268423.1:p.Arg193=
XM_005264271.1:c.1186C= XP_005264328.1:p.Arg396=
XM_011532798.1:c.1300C= XP_011531100.1:p.Arg434=
XM_011532799.1:c.1186C= XP_011531101.1:p.Arg396=
XM_011532800.1:c.1186C= XP_011531102.1:p.Arg396=
XM_024452819.1:c.1483C= XP_024308587.1:p.Arg495=
XM_024452820.1:c.1300C= XP_024308588.1:p.Arg434=
XM_024452821.1:c.1186C= XP_024308589.1:p.Arg396=
XM_024452822.1:c.577C= XP_024308590.1:p.Arg193=
NM_000179.3:c.1483C= MANE Select NP_000170.1:p.Arg495=
NM_001281492.2:c.1093C= NP_001268421.1:p.Arg365=
NM_001281493.2:c.577C= NP_001268422.1:p.Arg193=
NM_001281494.2:c.577C= NP_001268423.1:p.Arg193=