Canonical Allele Identifier: CA2496038145
Gene: MSH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783357C= , CM000664.2:g.47783357C= GRCh38
NC_000002.11:g.48010496C= , CM000664.1:g.48010496C= GRCh37
NC_000002.10:g.47864000C= NCBI36
NG_007111.1:g.5211C= , LRG_219:g.5211C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.124C= ENSP00000514752.2:p.Pro42=
ENST00000699999.1:n.208C=
ENST00000700000.1:c.124C= ENSP00000514749.1:p.Pro42=
ENST00000700001.1:n.196C=
ENST00000700002.1:c.124C= ENSP00000514750.1:p.Pro42=
ENST00000700003.1:c.124C= ENSP00000514751.1:p.Pro42=
ENST00000234420.11:c.124C= MANE Select ENSP00000234420.5:p.Pro42=
ENST00000540021.6:c.124C= ENSP00000446475.1:p.Pro42=
ENST00000652107.1:c.-37-7570C= ENSP00000498629.1:n.-37-7570C=
ENST00000673637.1:c.-38+126C= ENSP00000501310.1:n.-38+126C=
ENST00000673922.1:n.213C=
ENST00000234420.9:c.124C= ENSP00000234420.4:p.Pro42=
ENST00000445503.5:c.124C= ENSP00000405294.1:p.Pro42=
ENST00000456246.1:c.124C= ENSP00000410570.1:p.Pro42=
ENST00000493177.1:n.188C=
ENST00000540021.5:c.124C= ENSP00000446475.1:p.Pro42=
ENST00000606499.1:c.-37-7570C= ENSP00000475605.1:n.-37-7570C=
ENST00000614496.4:c.-613C= ENSP00000477844.1:n.-613C=
ENST00000616033.4:c.122C= ENSP00000480261.1:p.Ser41=
ENST00000622629.4:c.-2973C= ENSP00000482078.1:n.-2973C=
NM_000179.2:c.124C= , LRG_219t1:c.124C= NP_000170.1:p.Pro42=
NM_001281492.1:c.124C= NP_001268421.1:p.Pro42=
NM_001281493.1:c.-613C= NP_001268422.1:n.-613C=
XM_011532800.1:c.-38+126C= XP_011531102.1:n.-38+126C=
XM_024452819.1:c.124C= XP_024308587.1:p.Pro42=
XM_024452822.1:c.-613C= XP_024308590.1:n.-613C=
NM_000179.3:c.124C= MANE Select NP_000170.1:p.Pro42=
NM_001281492.2:c.124C= NP_001268421.1:p.Pro42=
NM_001281493.2:c.-613C= NP_001268422.1:n.-613C=