Canonical Allele Identifier: CA375793966
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813426G>C , CM000671.2:g.137813426G>C GRCh38
NC_000009.11:g.140707878G>C , CM000671.1:g.140707878G>C GRCh37
NC_000009.10:g.139827699G>C NCBI36
NG_011776.1:g.199435G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000460843.6:c.3076G>C MANE Select ENSP00000417980.1:p.Val1026Leu
ENST00000637161.1:c.2983G>C ENSP00000490328.1:p.Val995Leu
ENST00000637261.1:c.3116G>C ENSP00000490815.1:n.3116G>C
ENST00000637891.1:c.970G>C ENSP00000490907.1:p.Val324Leu
ENST00000460843.5:c.3076G>C ENSP00000417980.1:p.Val1026Leu
ENST00000462942.3:c.1933G>C ENSP00000436107.1:p.Val645Leu
ENST00000486164.5:c.763G>C
ENST00000488242.2:n.602G>C
NM_024757.4:c.3076G>C NP_079033.4:p.Val1026Leu
XM_005266105.3:c.3067G>C XP_005266162.1:p.Val1023Leu
XM_005266110.1:c.2983G>C XP_005266167.1:p.Val995Leu
XM_006717288.2:c.3058G>C XP_006717351.1:p.Val1020Leu
XM_011519021.1:c.3085G>C XP_011517323.1:p.Val1029Leu
XM_011519022.1:c.3082G>C XP_011517324.1:p.Val1028Leu
XM_011519023.1:c.3064G>C XP_011517325.1:p.Val1022Leu
XM_011519024.1:c.3007G>C XP_011517326.1:p.Val1003Leu
XM_011519025.1:c.2983G>C XP_011517327.1:p.Val995Leu
XM_011519026.1:c.2941G>C XP_011517328.1:p.Val981Leu
XM_011519029.1:c.1507G>C XP_011517331.1:p.Val503Leu
XM_011519030.1:c.859G>C XP_011517332.1:p.Val287Leu
XM_011519031.1:c.646G>C XP_011517333.1:p.Val216Leu
XM_011519032.1:c.646G>C XP_011517334.1:p.Val216Leu
XM_011519033.1:c.2920G>C XP_011517335.1:p.Val974Leu
NM_001354263.1:c.3055G>C NP_001341192.1:p.Val1019Leu
XM_005266105.5:c.3067G>C XP_005266162.1:p.Val1023Leu
XM_011519021.3:c.3085G>C XP_011517323.1:p.Val1029Leu
XM_011519022.3:c.3082G>C XP_011517324.1:p.Val1028Leu
XM_011519023.3:c.3064G>C XP_011517325.1:p.Val1022Leu
XM_011519029.3:c.1507G>C XP_011517331.1:p.Val503Leu
XM_011519030.3:c.859G>C XP_011517332.1:p.Val287Leu
XM_017015134.1:c.3061G>C XP_016870623.1:p.Val1021Leu
XM_017015136.2:c.2977G>C XP_016870625.1:p.Val993Leu
XM_017015137.1:c.2962G>C XP_016870626.1:p.Val988Leu
XM_017015138.1:c.2962G>C XP_016870627.1:p.Val988Leu
XM_024447674.1:c.2905G>C XP_024303442.1:p.Val969Leu
XM_024447675.1:c.2839G>C XP_024303443.1:p.Val947Leu
XM_024447676.1:c.2200G>C XP_024303444.1:p.Val734Leu
XM_024447677.1:c.2200G>C XP_024303445.1:p.Val734Leu
XM_024447680.1:c.2818G>C XP_024303448.1:p.Val940Leu
NM_024757.5:c.3076G>C MANE Select NP_079033.4:p.Val1026Leu
NM_001354263.2:c.3055G>C NP_001341192.1:p.Val1019Leu