Canonical Allele Identifier: CA375796450
Community Standard Title: NM_024757.5(EHMT1):c.3310G>T (p.Glu1104Ter)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137815998G>T , CM000671.2:g.137815998G>T GRCh38
NC_000009.11:g.140710450G>T , CM000671.1:g.140710450G>T GRCh37
NC_000009.10:g.139830271G>T NCBI36
NG_011776.1:g.202007G>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3310G>T MANE Select NP_079033.4:p.Glu1104Ter
ENST00000460843.6:c.3310G>T MANE Select ENSP00000417980.1:p.Glu1104Ter
NM_001354263.1:c.3289G>T NP_001341192.1:p.Glu1097Ter
NM_001354263.2:c.3289G>T NP_001341192.1:p.Glu1097Ter
NM_024757.4:c.3310G>T NP_079033.4:p.Glu1104Ter
ENST00000460843.5:c.3310G>T ENSP00000417980.1:p.Glu1104Ter
ENST00000462942.3:c.2167G>T ENSP00000436107.1:p.Glu723Ter
ENST00000494249.5:n.663G>T
ENST00000637161.1:c.3217G>T ENSP00000490328.1:p.Glu1073Ter
ENST00000637261.1:c.3350G>T ENSP00000490815.1:n.3350G>T
ENST00000637748.1:n.247G>T
ENST00000637891.1:c.1384G>T ENSP00000490907.1:n.1384G>T
XM_005266105.3:c.3301G>T XP_005266162.1:p.Glu1101Ter
XM_005266105.5:c.3301G>T XP_005266162.1:p.Glu1101Ter
XM_005266110.1:c.3217G>T XP_005266167.1:p.Glu1073Ter
XM_006717288.2:c.3292G>T XP_006717351.1:p.Glu1098Ter
XM_011519021.1:c.3319G>T XP_011517323.1:p.Glu1107Ter
XM_011519021.3:c.3319G>T XP_011517323.1:p.Glu1107Ter
XM_011519022.1:c.3316G>T XP_011517324.1:p.Glu1106Ter
XM_011519022.3:c.3316G>T XP_011517324.1:p.Glu1106Ter
XM_011519023.1:c.3298G>T XP_011517325.1:p.Glu1100Ter
XM_011519023.3:c.3298G>T XP_011517325.1:p.Glu1100Ter
XM_011519024.1:c.3241G>T XP_011517326.1:p.Glu1081Ter
XM_011519025.1:c.3217G>T XP_011517327.1:p.Glu1073Ter
XM_011519026.1:c.3175G>T XP_011517328.1:p.Glu1059Ter
XM_011519029.1:c.1741G>T XP_011517331.1:p.Glu581Ter
XM_011519029.3:c.1741G>T XP_011517331.1:p.Glu581Ter
XM_011519030.1:c.1093G>T XP_011517332.1:p.Glu365Ter
XM_011519030.3:c.1093G>T XP_011517332.1:p.Glu365Ter
XM_011519031.1:c.880G>T XP_011517333.1:p.Glu294Ter
XM_011519032.1:c.880G>T XP_011517334.1:p.Glu294Ter
XM_011519033.1:c.3154G>T XP_011517335.1:p.Glu1052Ter
XM_017015134.1:c.3295G>T XP_016870623.1:p.Glu1099Ter
XM_017015136.2:c.3211G>T XP_016870625.1:p.Glu1071Ter
XM_017015137.1:c.3196G>T XP_016870626.1:p.Glu1066Ter
XM_017015138.1:c.3196G>T XP_016870627.1:p.Glu1066Ter
XM_024447674.1:c.3139G>T XP_024303442.1:p.Glu1047Ter
XM_024447675.1:c.3073G>T XP_024303443.1:p.Glu1025Ter
XM_024447676.1:c.2434G>T XP_024303444.1:p.Glu812Ter
XM_024447677.1:c.2434G>T XP_024303445.1:p.Glu812Ter
XM_024447680.1:c.3052G>T XP_024303448.1:p.Glu1018Ter
XR_930459.1:n.5297-1436C>A