Canonical Allele Identifier: CA2496038164
Gene: MSH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783378G= , CM000664.2:g.47783378G= GRCh38
NC_000002.11:g.48010517G= , CM000664.1:g.48010517G= GRCh37
NC_000002.10:g.47864021G= NCBI36
NG_007111.1:g.5232G= , LRG_219:g.5232G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.145G= ENSP00000514752.2:p.Ala49=
ENST00000699999.1:n.229G=
ENST00000700000.1:c.145G= ENSP00000514749.1:p.Ala49=
ENST00000700001.1:n.217G=
ENST00000700002.1:c.145G= ENSP00000514750.1:p.Ala49=
ENST00000700003.1:c.145G= ENSP00000514751.1:p.Ala49=
ENST00000234420.11:c.145G= MANE Select ENSP00000234420.5:p.Ala49=
ENST00000540021.6:c.145G= ENSP00000446475.1:p.Ala49=
ENST00000652107.1:c.-37-7549G= ENSP00000498629.1:n.-37-7549G=
ENST00000673637.1:c.-38+147G= ENSP00000501310.1:n.-38+147G=
ENST00000673922.1:n.234G=
ENST00000234420.9:c.145G= ENSP00000234420.4:p.Ala49=
ENST00000445503.5:c.145G= ENSP00000405294.1:p.Ala49=
ENST00000456246.1:c.145G= ENSP00000410570.1:p.Ala49=
ENST00000493177.1:n.209G=
ENST00000540021.5:c.145G= ENSP00000446475.1:p.Ala49=
ENST00000606499.1:c.-37-7549G= ENSP00000475605.1:n.-37-7549G=
ENST00000614496.4:c.-592G= ENSP00000477844.1:n.-592G=
ENST00000616033.4:c.143G= ENSP00000480261.1:p.Gly48=
ENST00000622629.4:c.-2952G= ENSP00000482078.1:n.-2952G=
NM_000179.2:c.145G= , LRG_219t1:c.145G= NP_000170.1:p.Ala49=
NM_001281492.1:c.145G= NP_001268421.1:p.Ala49=
NM_001281493.1:c.-592G= NP_001268422.1:n.-592G=
XM_011532800.1:c.-38+147G= XP_011531102.1:n.-38+147G=
XM_024452819.1:c.145G= XP_024308587.1:p.Ala49=
XM_024452822.1:c.-592G= XP_024308590.1:n.-592G=
NM_000179.3:c.145G= MANE Select NP_000170.1:p.Ala49=
NM_001281492.2:c.145G= NP_001268421.1:p.Ala49=
NM_001281493.2:c.-592G= NP_001268422.1:n.-592G=