Canonical Allele Identifier: CA201845853
Community Standard Title: NM_024757.5(EHMT1):c.3294G>T (p.Glu1098Asp)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137815982G>T , CM000671.2:g.137815982G>T GRCh38
NC_000009.11:g.140710434G>T , CM000671.1:g.140710434G>T GRCh37
NC_000009.10:g.139830255G>T NCBI36
NG_011776.1:g.201991G>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3294G>T MANE Select NP_079033.4:p.Glu1098Asp
ENST00000460843.6:c.3294G>T MANE Select ENSP00000417980.1:p.Glu1098Asp
NM_001354263.1:c.3273G>T NP_001341192.1:p.Glu1091Asp
NM_001354263.2:c.3273G>T NP_001341192.1:p.Glu1091Asp
NM_024757.4:c.3294G>T NP_079033.4:p.Glu1098Asp
ENST00000460843.5:c.3294G>T ENSP00000417980.1:p.Glu1098Asp
ENST00000462942.3:c.2151G>T ENSP00000436107.1:p.Glu717Asp
ENST00000494249.5:n.647G>T
ENST00000636463.1:n.99G>T
ENST00000637161.1:c.3201G>T ENSP00000490328.1:p.Glu1067Asp
ENST00000637261.1:c.3334G>T ENSP00000490815.1:n.3334G>T
ENST00000637748.1:n.231G>T
ENST00000637891.1:c.1368G>T ENSP00000490907.1:n.1368G>T
XM_005266105.3:c.3285G>T XP_005266162.1:p.Glu1095Asp
XM_005266105.5:c.3285G>T XP_005266162.1:p.Glu1095Asp
XM_005266110.1:c.3201G>T XP_005266167.1:p.Glu1067Asp
XM_006717288.2:c.3276G>T XP_006717351.1:p.Glu1092Asp
XM_011519021.1:c.3303G>T XP_011517323.1:p.Glu1101Asp
XM_011519021.3:c.3303G>T XP_011517323.1:p.Glu1101Asp
XM_011519022.1:c.3300G>T XP_011517324.1:p.Glu1100Asp
XM_011519022.3:c.3300G>T XP_011517324.1:p.Glu1100Asp
XM_011519023.1:c.3282G>T XP_011517325.1:p.Glu1094Asp
XM_011519023.3:c.3282G>T XP_011517325.1:p.Glu1094Asp
XM_011519024.1:c.3225G>T XP_011517326.1:p.Glu1075Asp
XM_011519025.1:c.3201G>T XP_011517327.1:p.Glu1067Asp
XM_011519026.1:c.3159G>T XP_011517328.1:p.Glu1053Asp
XM_011519029.1:c.1725G>T XP_011517331.1:p.Glu575Asp
XM_011519029.3:c.1725G>T XP_011517331.1:p.Glu575Asp
XM_011519030.1:c.1077G>T XP_011517332.1:p.Glu359Asp
XM_011519030.3:c.1077G>T XP_011517332.1:p.Glu359Asp
XM_011519031.1:c.864G>T XP_011517333.1:p.Glu288Asp
XM_011519032.1:c.864G>T XP_011517334.1:p.Glu288Asp
XM_011519033.1:c.3138G>T XP_011517335.1:p.Glu1046Asp
XM_017015134.1:c.3279G>T XP_016870623.1:p.Glu1093Asp
XM_017015136.2:c.3195G>T XP_016870625.1:p.Glu1065Asp
XM_017015137.1:c.3180G>T XP_016870626.1:p.Glu1060Asp
XM_017015138.1:c.3180G>T XP_016870627.1:p.Glu1060Asp
XM_024447674.1:c.3123G>T XP_024303442.1:p.Glu1041Asp
XM_024447675.1:c.3057G>T XP_024303443.1:p.Glu1019Asp
XM_024447676.1:c.2418G>T XP_024303444.1:p.Glu806Asp
XM_024447677.1:c.2418G>T XP_024303445.1:p.Glu806Asp
XM_024447680.1:c.3036G>T XP_024303448.1:p.Glu1012Asp
XR_930459.1:n.5297-1420C>A