Canonical Allele Identifier: CA5375407
Community Standard Title: NM_024757.5(EHMT1):c.3646C>T (p.His1216Tyr)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137834454C>T , CM000671.2:g.137834454C>T GRCh38
NC_000009.11:g.140728906C>T , CM000671.1:g.140728906C>T GRCh37
NC_000009.10:g.139848727C>T NCBI36
NG_011776.1:g.220463C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3646C>T MANE Select NP_079033.4:p.His1216Tyr
ENST00000460843.6:c.3646C>T MANE Select ENSP00000417980.1:p.His1216Tyr
NM_001354263.1:c.3625C>T NP_001341192.1:p.His1209Tyr
NM_001354263.2:c.3625C>T NP_001341192.1:p.His1209Tyr
NM_024757.4:c.3646C>T NP_079033.4:p.His1216Tyr
ENST00000460843.5:c.3646C>T ENSP00000417980.1:p.His1216Tyr
ENST00000462942.3:c.2398-12106C>T ENSP00000436107.1:n.2398-12106C>T
ENST00000472849.1:n.418C>T
ENST00000475564.5:n.1370C>T
ENST00000475704.2:n.376C>T
ENST00000494249.5:n.999C>T
ENST00000637161.1:c.3553C>T ENSP00000490328.1:p.His1185Tyr
ENST00000637748.1:n.627C>T
ENST00000637891.1:c.1720C>T ENSP00000490907.1:n.1720C>T
XM_005266105.3:c.3637C>T XP_005266162.1:p.His1213Tyr
XM_005266105.5:c.3637C>T XP_005266162.1:p.His1213Tyr
XM_005266110.1:c.3553C>T XP_005266167.1:p.His1185Tyr
XM_006717288.2:c.3628C>T XP_006717351.1:p.His1210Tyr
XM_011519021.1:c.3655C>T XP_011517323.1:p.His1219Tyr
XM_011519021.3:c.3655C>T XP_011517323.1:p.His1219Tyr
XM_011519022.1:c.3652C>T XP_011517324.1:p.His1218Tyr
XM_011519022.3:c.3652C>T XP_011517324.1:p.His1218Tyr
XM_011519023.1:c.3634C>T XP_011517325.1:p.His1212Tyr
XM_011519023.3:c.3634C>T XP_011517325.1:p.His1212Tyr
XM_011519024.1:c.3577C>T XP_011517326.1:p.His1193Tyr
XM_011519025.1:c.3553C>T XP_011517327.1:p.His1185Tyr
XM_011519026.1:c.3511C>T XP_011517328.1:p.His1171Tyr
XM_011519029.1:c.2077C>T XP_011517331.1:p.His693Tyr
XM_011519029.3:c.2077C>T XP_011517331.1:p.His693Tyr
XM_011519030.1:c.1429C>T XP_011517332.1:p.His477Tyr
XM_011519030.3:c.1429C>T XP_011517332.1:p.His477Tyr
XM_011519031.1:c.1216C>T XP_011517333.1:p.His406Tyr
XM_011519032.1:c.1216C>T XP_011517334.1:p.His406Tyr
XM_011519033.1:c.3490C>T XP_011517335.1:p.His1164Tyr
XM_017015134.1:c.3631C>T XP_016870623.1:p.His1211Tyr
XM_017015136.2:c.3547C>T XP_016870625.1:p.His1183Tyr
XM_017015137.1:c.3532C>T XP_016870626.1:p.His1178Tyr
XM_017015138.1:c.3532C>T XP_016870627.1:p.His1178Tyr
XM_024447674.1:c.3475C>T XP_024303442.1:p.His1159Tyr
XM_024447675.1:c.3409C>T XP_024303443.1:p.His1137Tyr
XM_024447676.1:c.2770C>T XP_024303444.1:p.His924Tyr
XM_024447677.1:c.2770C>T XP_024303445.1:p.His924Tyr
XM_024447680.1:c.3388C>T XP_024303448.1:p.His1130Tyr