Canonical Allele Identifier: CA2496054316

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806599C= , CM000664.2:g.47806599C= GRCh38
NC_000002.11:g.48033738C= , CM000664.1:g.48033738C= GRCh37
NC_000002.10:g.47887242C= NCBI36
NG_007111.1:g.28453C= , LRG_219:g.28453C=
NG_008397.1:g.104077G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3652C= (MSH6) ENSP00000406248.2:p.His1218=
ENST00000420813.6:c.3652C= (MSH6) ENSP00000390382.2:p.His1218=
ENST00000455383.6:c.3652C= (MSH6) ENSP00000397484.2:p.His1218=
ENST00000700004.2:c.3565C= (MSH6) ENSP00000514752.2:p.His1189=
ENST00000699999.1:n.4623C= (MSH6)
ENST00000700000.1:c.2383C= (MSH6) ENSP00000514749.1:p.His795=
ENST00000700002.1:c.3955C= (MSH6) ENSP00000514750.1:p.His1319=
ENST00000700003.1:c.1404C= (MSH6) ENSP00000514751.1:n.1404C=
ENST00000700004.1:c.2722C= (MSH6) ENSP00000514752.1:p.His908=
ENST00000700005.1:n.2800C= (MSH6)
ENST00000700006.1:n.5107C= (MSH6)
ENST00000700007.1:n.2544C= (MSH6)
ENST00000700008.1:n.2211C= (MSH6)
ENST00000700009.1:n.2613C= (MSH6)
ENST00000700010.1:n.1358C= (MSH6)
ENST00000700011.1:n.3243C= (MSH6)
ENST00000682451.1:n.4149G= (FBXO11)
ENST00000684712.1:n.4411G= (FBXO11)
ENST00000234420.11:c.3949C= (MSH6) MANE Select ENSP00000234420.5:p.His1317=
ENST00000540021.6:c.3559C= (MSH6) ENSP00000446475.1:p.His1187=
ENST00000652107.1:c.3652C= (MSH6) ENSP00000498629.1:p.His1218=
ENST00000673637.1:c.3652C= (MSH6) ENSP00000501310.1:p.His1218=
ENST00000234420.9:c.3949C= (MSH6) ENSP00000234420.4:p.His1317=
ENST00000405808.5:c.169+1596G= (FBXO11) ENSP00000385127.1:n.169+1596G=
ENST00000434234.5:c.*124+1395G= (FBXO11) ENSP00000402692.1:n.*124+1395G=
ENST00000445503.5:c.*3296C= (MSH6) ENSP00000405294.1:n.*3296C=
ENST00000538136.1:c.3043C= (MSH6) ENSP00000438580.1:p.His1015=
ENST00000540021.5:c.3559C= (MSH6) ENSP00000446475.1:p.His1187=
ENST00000614496.4:c.3043C= (MSH6) ENSP00000477844.1:p.His1015=
ENST00000622629.4:c.850C= (MSH6) ENSP00000482078.1:p.His284=
NM_000179.2:c.3949C= , LRG_219t1:c.3949C= (MSH6) NP_000170.1:p.His1317=
NM_001281492.1:c.3559C= (MSH6) NP_001268421.1:p.His1187=
NM_001281493.1:c.3043C= (MSH6) NP_001268422.1:p.His1015=
NM_001281494.1:c.3043C= (MSH6) NP_001268423.1:p.His1015=
XM_005264271.1:c.3652C= (MSH6) XP_005264328.1:p.His1218=
XM_011532798.1:c.3766C= (MSH6) XP_011531100.1:p.His1256=
XM_011532799.1:c.3652C= (MSH6) XP_011531101.1:p.His1218=
XM_011532800.1:c.3652C= (MSH6) XP_011531102.1:p.His1218=
XM_024452819.1:c.4042C= (MSH6) XP_024308587.1:p.His1348=
XM_024452820.1:c.3859C= (MSH6) XP_024308588.1:p.His1287=
XM_024452821.1:c.3745C= (MSH6) XP_024308589.1:p.His1249=
XM_024452822.1:c.3136C= (MSH6) XP_024308590.1:p.His1046=
NM_000179.3:c.3949C= (MSH6) MANE Select NP_000170.1:p.His1317=
NM_001281492.2:c.3559C= (MSH6) NP_001268421.1:p.His1187=
NM_001281493.2:c.3043C= (MSH6) NP_001268422.1:p.His1015=
NM_001281494.2:c.3043C= (MSH6) NP_001268423.1:p.His1015=