Canonical Allele Identifier: CA375773405
Community Standard Title: NM_024757.5(EHMT1):c.3482C>G (p.Ser1161Ter)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137818080C>G , CM000671.2:g.137818080C>G GRCh38
NC_000009.11:g.140712532C>G , CM000671.1:g.140712532C>G GRCh37
NC_000009.10:g.139832353C>G NCBI36
NG_011776.1:g.204089C>G

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3482C>G MANE Select NP_079033.4:p.Ser1161Ter
ENST00000460843.6:c.3482C>G MANE Select ENSP00000417980.1:p.Ser1161Ter
NM_001354263.1:c.3461C>G NP_001341192.1:p.Ser1154Ter
NM_001354263.2:c.3461C>G NP_001341192.1:p.Ser1154Ter
NM_024757.4:c.3482C>G NP_079033.4:p.Ser1161Ter
ENST00000460843.5:c.3482C>G ENSP00000417980.1:p.Ser1161Ter
ENST00000462942.3:c.2339C>G ENSP00000436107.1:p.Ser780Ter
ENST00000475564.5:n.1206C>G
ENST00000494249.5:n.835C>G
ENST00000636472.1:n.44C>G
ENST00000637161.1:c.3389C>G ENSP00000490328.1:p.Ser1130Ter
ENST00000637261.1:c.4056C>G ENSP00000490815.1:n.4056C>G
ENST00000637748.1:n.463C>G
ENST00000637891.1:c.1556C>G ENSP00000490907.1:n.1556C>G
XM_005266105.3:c.3473C>G XP_005266162.1:p.Ser1158Ter
XM_005266105.5:c.3473C>G XP_005266162.1:p.Ser1158Ter
XM_005266110.1:c.3389C>G XP_005266167.1:p.Ser1130Ter
XM_006717288.2:c.3464C>G XP_006717351.1:p.Ser1155Ter
XM_011519021.1:c.3491C>G XP_011517323.1:p.Ser1164Ter
XM_011519021.3:c.3491C>G XP_011517323.1:p.Ser1164Ter
XM_011519022.1:c.3488C>G XP_011517324.1:p.Ser1163Ter
XM_011519022.3:c.3488C>G XP_011517324.1:p.Ser1163Ter
XM_011519023.1:c.3470C>G XP_011517325.1:p.Ser1157Ter
XM_011519023.3:c.3470C>G XP_011517325.1:p.Ser1157Ter
XM_011519024.1:c.3413C>G XP_011517326.1:p.Ser1138Ter
XM_011519025.1:c.3389C>G XP_011517327.1:p.Ser1130Ter
XM_011519026.1:c.3347C>G XP_011517328.1:p.Ser1116Ter
XM_011519029.1:c.1913C>G XP_011517331.1:p.Ser638Ter
XM_011519029.3:c.1913C>G XP_011517331.1:p.Ser638Ter
XM_011519030.1:c.1265C>G XP_011517332.1:p.Ser422Ter
XM_011519030.3:c.1265C>G XP_011517332.1:p.Ser422Ter
XM_011519031.1:c.1052C>G XP_011517333.1:p.Ser351Ter
XM_011519032.1:c.1052C>G XP_011517334.1:p.Ser351Ter
XM_011519033.1:c.3326C>G XP_011517335.1:p.Ser1109Ter
XM_017015134.1:c.3467C>G XP_016870623.1:p.Ser1156Ter
XM_017015136.2:c.3383C>G XP_016870625.1:p.Ser1128Ter
XM_017015137.1:c.3368C>G XP_016870626.1:p.Ser1123Ter
XM_017015138.1:c.3368C>G XP_016870627.1:p.Ser1123Ter
XM_024447674.1:c.3311C>G XP_024303442.1:p.Ser1104Ter
XM_024447675.1:c.3245C>G XP_024303443.1:p.Ser1082Ter
XM_024447676.1:c.2606C>G XP_024303444.1:p.Ser869Ter
XM_024447677.1:c.2606C>G XP_024303445.1:p.Ser869Ter
XM_024447680.1:c.3224C>G XP_024303448.1:p.Ser1075Ter
XR_930459.1:n.5297-3518G>C