Canonical Allele Identifier: CA375793812
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813393G>C , CM000671.2:g.137813393G>C GRCh38
NC_000009.11:g.140707845G>C , CM000671.1:g.140707845G>C GRCh37
NC_000009.10:g.139827666G>C NCBI36
NG_011776.1:g.199402G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.3043G>C MANE Select ENSP00000417980.1:p.Ala1015Pro
ENST00000636027.1:c.2929G>C ENSP00000489961.1:p.Ala977Pro
ENST00000637161.1:c.2950G>C ENSP00000490328.1:p.Ala984Pro
ENST00000637261.1:c.3083G>C ENSP00000490815.1:n.3083G>C
ENST00000637891.1:c.937G>C ENSP00000490907.1:p.Ala313Pro
ENST00000460843.5:c.3043G>C ENSP00000417980.1:p.Ala1015Pro
ENST00000462942.3:c.1900G>C ENSP00000436107.1:p.Ala634Pro
ENST00000486164.5:c.730G>C
ENST00000488242.2:n.569G>C
NM_024757.4:c.3043G>C NP_079033.4:p.Ala1015Pro
XM_005266105.3:c.3034G>C XP_005266162.1:p.Ala1012Pro
XM_005266110.1:c.2950G>C XP_005266167.1:p.Ala984Pro
XM_006717288.2:c.3025G>C XP_006717351.1:p.Ala1009Pro
XM_011519021.1:c.3052G>C XP_011517323.1:p.Ala1018Pro
XM_011519022.1:c.3049G>C XP_011517324.1:p.Ala1017Pro
XM_011519023.1:c.3031G>C XP_011517325.1:p.Ala1011Pro
XM_011519024.1:c.2974G>C XP_011517326.1:p.Ala992Pro
XM_011519025.1:c.2950G>C XP_011517327.1:p.Ala984Pro
XM_011519026.1:c.2908G>C XP_011517328.1:p.Ala970Pro
XM_011519029.1:c.1474G>C XP_011517331.1:p.Ala492Pro
XM_011519030.1:c.826G>C XP_011517332.1:p.Ala276Pro
XM_011519031.1:c.613G>C XP_011517333.1:p.Ala205Pro
XM_011519032.1:c.613G>C XP_011517334.1:p.Ala205Pro
XM_011519033.1:c.2887G>C XP_011517335.1:p.Ala963Pro
NM_001354263.1:c.3022G>C NP_001341192.1:p.Ala1008Pro
XM_005266105.5:c.3034G>C XP_005266162.1:p.Ala1012Pro
XM_011519021.3:c.3052G>C XP_011517323.1:p.Ala1018Pro
XM_011519022.3:c.3049G>C XP_011517324.1:p.Ala1017Pro
XM_011519023.3:c.3031G>C XP_011517325.1:p.Ala1011Pro
XM_011519029.3:c.1474G>C XP_011517331.1:p.Ala492Pro
XM_011519030.3:c.826G>C XP_011517332.1:p.Ala276Pro
XM_017015134.1:c.3028G>C XP_016870623.1:p.Ala1010Pro
XM_017015136.2:c.2944G>C XP_016870625.1:p.Ala982Pro
XM_017015137.1:c.2929G>C XP_016870626.1:p.Ala977Pro
XM_017015138.1:c.2929G>C XP_016870627.1:p.Ala977Pro
XM_024447674.1:c.2872G>C XP_024303442.1:p.Ala958Pro
XM_024447675.1:c.2806G>C XP_024303443.1:p.Ala936Pro
XM_024447676.1:c.2167G>C XP_024303444.1:p.Ala723Pro
XM_024447677.1:c.2167G>C XP_024303445.1:p.Ala723Pro
XM_024447680.1:c.2785G>C XP_024303448.1:p.Ala929Pro
NM_024757.5:c.3043G>C MANE Select NP_079033.4:p.Ala1015Pro
NM_001354263.2:c.3022G>C NP_001341192.1:p.Ala1008Pro