Canonical Allele Identifier: CA375794518
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813504A>T , CM000671.2:g.137813504A>T GRCh38
NC_000009.11:g.140707956A>T , CM000671.1:g.140707956A>T GRCh37
NC_000009.10:g.139827777A>T NCBI36
NG_011776.1:g.199513A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.3154A>T MANE Select ENSP00000417980.1:p.Ile1052Phe
ENST00000637161.1:c.3061A>T ENSP00000490328.1:p.Ile1021Phe
ENST00000637261.1:c.3194A>T ENSP00000490815.1:n.3194A>T
ENST00000637891.1:c.1048A>T ENSP00000490907.1:p.Ile350Phe
ENST00000460843.5:c.3154A>T ENSP00000417980.1:p.Ile1052Phe
ENST00000462942.3:c.2011A>T ENSP00000436107.1:p.Ile671Phe
ENST00000483653.1:n.14A>T
ENST00000488242.2:n.680A>T
NM_024757.4:c.3154A>T NP_079033.4:p.Ile1052Phe
XM_005266105.3:c.3145A>T XP_005266162.1:p.Ile1049Phe
XM_005266110.1:c.3061A>T XP_005266167.1:p.Ile1021Phe
XM_006717288.2:c.3136A>T XP_006717351.1:p.Ile1046Phe
XM_011519021.1:c.3163A>T XP_011517323.1:p.Ile1055Phe
XM_011519022.1:c.3160A>T XP_011517324.1:p.Ile1054Phe
XM_011519023.1:c.3142A>T XP_011517325.1:p.Ile1048Phe
XM_011519024.1:c.3085A>T XP_011517326.1:p.Ile1029Phe
XM_011519025.1:c.3061A>T XP_011517327.1:p.Ile1021Phe
XM_011519026.1:c.3019A>T XP_011517328.1:p.Ile1007Phe
XM_011519029.1:c.1585A>T XP_011517331.1:p.Ile529Phe
XM_011519030.1:c.937A>T XP_011517332.1:p.Ile313Phe
XM_011519031.1:c.724A>T XP_011517333.1:p.Ile242Phe
XM_011519032.1:c.724A>T XP_011517334.1:p.Ile242Phe
XM_011519033.1:c.2998A>T XP_011517335.1:p.Ile1000Phe
NM_001354263.1:c.3133A>T NP_001341192.1:p.Ile1045Phe
XM_005266105.5:c.3145A>T XP_005266162.1:p.Ile1049Phe
XM_011519021.3:c.3163A>T XP_011517323.1:p.Ile1055Phe
XM_011519022.3:c.3160A>T XP_011517324.1:p.Ile1054Phe
XM_011519023.3:c.3142A>T XP_011517325.1:p.Ile1048Phe
XM_011519029.3:c.1585A>T XP_011517331.1:p.Ile529Phe
XM_011519030.3:c.937A>T XP_011517332.1:p.Ile313Phe
XM_017015134.1:c.3139A>T XP_016870623.1:p.Ile1047Phe
XM_017015136.2:c.3055A>T XP_016870625.1:p.Ile1019Phe
XM_017015137.1:c.3040A>T XP_016870626.1:p.Ile1014Phe
XM_017015138.1:c.3040A>T XP_016870627.1:p.Ile1014Phe
XM_024447674.1:c.2983A>T XP_024303442.1:p.Ile995Phe
XM_024447675.1:c.2917A>T XP_024303443.1:p.Ile973Phe
XM_024447676.1:c.2278A>T XP_024303444.1:p.Ile760Phe
XM_024447677.1:c.2278A>T XP_024303445.1:p.Ile760Phe
XM_024447680.1:c.2896A>T XP_024303448.1:p.Ile966Phe
NM_024757.5:c.3154A>T MANE Select NP_079033.4:p.Ile1052Phe
NM_001354263.2:c.3133A>T NP_001341192.1:p.Ile1045Phe