Canonical Allele Identifier: CA375794482
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813500G>C , CM000671.2:g.137813500G>C GRCh38
NC_000009.11:g.140707952G>C , CM000671.1:g.140707952G>C GRCh37
NC_000009.10:g.139827773G>C NCBI36
NG_011776.1:g.199509G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.3150G>C MANE Select ENSP00000417980.1:p.Met1050Ile
ENST00000637161.1:c.3057G>C ENSP00000490328.1:p.Met1019Ile
ENST00000637261.1:c.3190G>C ENSP00000490815.1:n.3190G>C
ENST00000637891.1:c.1044G>C ENSP00000490907.1:p.Met348Ile
ENST00000460843.5:c.3150G>C ENSP00000417980.1:p.Met1050Ile
ENST00000462942.3:c.2007G>C ENSP00000436107.1:p.Met669Ile
ENST00000483653.1:n.10G>C
ENST00000488242.2:n.676G>C
NM_024757.4:c.3150G>C NP_079033.4:p.Met1050Ile
XM_005266105.3:c.3141G>C XP_005266162.1:p.Met1047Ile
XM_005266110.1:c.3057G>C XP_005266167.1:p.Met1019Ile
XM_006717288.2:c.3132G>C XP_006717351.1:p.Met1044Ile
XM_011519021.1:c.3159G>C XP_011517323.1:p.Met1053Ile
XM_011519022.1:c.3156G>C XP_011517324.1:p.Met1052Ile
XM_011519023.1:c.3138G>C XP_011517325.1:p.Met1046Ile
XM_011519024.1:c.3081G>C XP_011517326.1:p.Met1027Ile
XM_011519025.1:c.3057G>C XP_011517327.1:p.Met1019Ile
XM_011519026.1:c.3015G>C XP_011517328.1:p.Met1005Ile
XM_011519029.1:c.1581G>C XP_011517331.1:p.Met527Ile
XM_011519030.1:c.933G>C XP_011517332.1:p.Met311Ile
XM_011519031.1:c.720G>C XP_011517333.1:p.Met240Ile
XM_011519032.1:c.720G>C XP_011517334.1:p.Met240Ile
XM_011519033.1:c.2994G>C XP_011517335.1:p.Met998Ile
NM_001354263.1:c.3129G>C NP_001341192.1:p.Met1043Ile
XM_005266105.5:c.3141G>C XP_005266162.1:p.Met1047Ile
XM_011519021.3:c.3159G>C XP_011517323.1:p.Met1053Ile
XM_011519022.3:c.3156G>C XP_011517324.1:p.Met1052Ile
XM_011519023.3:c.3138G>C XP_011517325.1:p.Met1046Ile
XM_011519029.3:c.1581G>C XP_011517331.1:p.Met527Ile
XM_011519030.3:c.933G>C XP_011517332.1:p.Met311Ile
XM_017015134.1:c.3135G>C XP_016870623.1:p.Met1045Ile
XM_017015136.2:c.3051G>C XP_016870625.1:p.Met1017Ile
XM_017015137.1:c.3036G>C XP_016870626.1:p.Met1012Ile
XM_017015138.1:c.3036G>C XP_016870627.1:p.Met1012Ile
XM_024447674.1:c.2979G>C XP_024303442.1:p.Met993Ile
XM_024447675.1:c.2913G>C XP_024303443.1:p.Met971Ile
XM_024447676.1:c.2274G>C XP_024303444.1:p.Met758Ile
XM_024447677.1:c.2274G>C XP_024303445.1:p.Met758Ile
XM_024447680.1:c.2892G>C XP_024303448.1:p.Met964Ile
NM_024757.5:c.3150G>C MANE Select NP_079033.4:p.Met1050Ile
NM_001354263.2:c.3129G>C NP_001341192.1:p.Met1043Ile