Canonical Allele Identifier: CA009482
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 89234
dbSNP Id: rs41294984

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783427C>T , CM000664.2:g.47783427C>T GRCh38
NC_000002.11:g.48010566C>T , CM000664.1:g.48010566C>T GRCh37
NC_000002.10:g.47864070C>T NCBI36
NG_007111.1:g.5281C>T , LRG_219:g.5281C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.194C>T MANE Select ENSP00000234420.5:p.Ser65Leu
ENST00000540021.6:c.194C>T ENSP00000446475.1:p.Ser65Leu
ENST00000652107.1:c.-37-7500C>T ENSP00000498629.1:p.=
ENST00000673637.1:c.-38+196C>T ENSP00000501310.1:p.=
ENST00000673922.1:n.283C>T
ENST00000234420.9:c.194C>T ENSP00000234420.4:p.Ser65Leu
ENST00000445503.5:c.194C>T ENSP00000405294.1:p.Ser65Leu
ENST00000456246.1:c.194C>T ENSP00000410570.1:p.Ser65Leu
ENST00000493177.1:n.258C>T
ENST00000540021.5:c.194C>T ENSP00000446475.1:p.Ser65Leu
ENST00000606499.1:c.-37-7500C>T ENSP00000475605.1:p.=
ENST00000614496.4:c.-543C>T ENSP00000477844.1:p.=
ENST00000616033.4:c.191C>T ENSP00000480261.1:p.Ser64Leu
ENST00000622629.4:c.-2903C>T ENSP00000482078.1:p.=
NM_000179.2:c.194C>T , LRG_219t1:c.194C>T NP_000170.1:p.Ser65Leu
NM_001281492.1:c.194C>T NP_001268421.1:p.Ser65Leu
NM_001281493.1:c.-543C>T NP_001268422.1:p.=
XM_011532800.1:c.-38+196C>T XP_011531102.1:p.=
XM_024452819.1:c.194C>T XP_024308587.1:p.Ser65Leu
XM_024452822.1:c.-543C>T XP_024308590.1:p.=
NM_000179.3:c.194C>T MANE Select NP_000170.1:p.Ser65Leu
NM_001281492.2:c.194C>T NP_001268421.1:p.Ser65Leu
NM_001281493.2:c.-543C>T NP_001268422.1:p.=