Canonical Allele Identifier: CA426120869

Gene: MSH6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783476G>C , CM000664.2:g.47783476G>C	GRCh38
NC_000002.11:g.48010615G>C , CM000664.1:g.48010615G>C	GRCh37
NC_000002.10:g.47864119G>C	NCBI36
NG_007111.1:g.5330G>C , LRG_219:g.5330G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000179.3:c.243G>C MANE Select	NP_000170.1:p.Ala81=
ENST00000234420.11:c.243G>C MANE Select	ENSP00000234420.5:p.Ala81=
NM_000179.2:c.243G>C , LRG_219t1:c.243G>C	NP_000170.1:p.Ala81=
NM_001281492.1:c.237+6G>C	NP_001268421.1:n.237+6G>C
NM_001281492.2:c.237+6G>C	NP_001268421.1:n.237+6G>C
NM_001281493.1:c.-494G>C	NP_001268422.1:n.-494G>C
NM_001281493.2:c.-494G>C	NP_001268422.1:n.-494G>C
ENST00000234420.9:c.243G>C	ENSP00000234420.4:p.Ala81=
ENST00000445503.5:c.243G>C	ENSP00000405294.1:p.Ala81=
ENST00000456246.1:c.243G>C	ENSP00000410570.1:p.Ala81=
ENST00000493177.1:n.307G>C
ENST00000540021.5:c.237+6G>C	ENSP00000446475.1:n.237+6G>C
ENST00000540021.6:c.237+6G>C	ENSP00000446475.1:n.237+6G>C
ENST00000606499.1:c.-37-7451G>C	ENSP00000475605.1:n.-37-7451G>C
ENST00000614496.4:c.-494G>C	ENSP00000477844.1:n.-494G>C
ENST00000616033.4:c.240G>C	ENSP00000480261.1:p.Ala80=
ENST00000622629.4:c.-2854G>C	ENSP00000482078.1:n.-2854G>C
ENST00000652107.1:c.-37-7451G>C	ENSP00000498629.1:n.-37-7451G>C
ENST00000673637.1:c.-38+245G>C	ENSP00000501310.1:n.-38+245G>C
ENST00000673922.1:n.332G>C
ENST00000699999.1:n.327G>C
ENST00000700000.1:c.243G>C	ENSP00000514749.1:p.Ala81=
ENST00000700001.1:n.315G>C
ENST00000700002.1:c.243G>C	ENSP00000514750.1:p.Ala81=
ENST00000700003.1:c.243G>C	ENSP00000514751.1:p.Ala81=
ENST00000700004.2:c.243G>C	ENSP00000514752.2:p.Ala81=
XM_011532800.1:c.-38+245G>C	XP_011531102.1:n.-38+245G>C
XM_024452819.1:c.243G>C	XP_024308587.1:p.Ala81=
XM_024452822.1:c.-494G>C	XP_024308590.1:n.-494G>C