Canonical Allele Identifier: CA375788729
Community Standard Title: NM_024757.5(EHMT1):c.2618G>T (p.Gly873Val)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137800890G>T , CM000671.2:g.137800890G>T GRCh38
NC_000009.11:g.140695342G>T , CM000671.1:g.140695342G>T GRCh37
NC_000009.10:g.139815163G>T NCBI36
NG_011776.1:g.186899G>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2618G>T MANE Select NP_079033.4:p.Gly873Val
ENST00000460843.6:c.2618G>T MANE Select ENSP00000417980.1:p.Gly873Val
NM_001354263.1:c.2597G>T NP_001341192.1:p.Gly866Val
NM_001354263.2:c.2597G>T NP_001341192.1:p.Gly866Val
NM_024757.4:c.2618G>T NP_079033.4:p.Gly873Val
ENST00000460843.5:c.2618G>T ENSP00000417980.1:p.Gly873Val
ENST00000462942.3:c.1475G>T ENSP00000436107.1:p.Gly492Val
ENST00000482340.5:c.188G>T ENSP00000486748.1:p.Gly63Val
ENST00000486164.5:c.196G>T
ENST00000488242.2:n.144G>T
ENST00000493484.5:c.188G>T ENSP00000486503.1:p.Gly63Val
ENST00000636027.1:c.2504G>T ENSP00000489961.1:p.Gly835Val
ENST00000637161.1:c.2525G>T ENSP00000490328.1:p.Gly842Val
ENST00000637261.1:c.2658G>T ENSP00000490815.1:n.2658G>T
ENST00000637891.1:c.512G>T ENSP00000490907.1:p.Gly171Val
ENST00000637949.1:c.296G>T ENSP00000489786.1:p.Gly99Val
XM_005266105.3:c.2609G>T XP_005266162.1:p.Gly870Val
XM_005266105.5:c.2609G>T XP_005266162.1:p.Gly870Val
XM_005266110.1:c.2525G>T XP_005266167.1:p.Gly842Val
XM_006717288.2:c.2600G>T XP_006717351.1:p.Gly867Val
XM_011519021.1:c.2627G>T XP_011517323.1:p.Gly876Val
XM_011519021.3:c.2627G>T XP_011517323.1:p.Gly876Val
XM_011519022.1:c.2624G>T XP_011517324.1:p.Gly875Val
XM_011519022.3:c.2624G>T XP_011517324.1:p.Gly875Val
XM_011519023.1:c.2606G>T XP_011517325.1:p.Gly869Val
XM_011519023.3:c.2606G>T XP_011517325.1:p.Gly869Val
XM_011519024.1:c.2549G>T XP_011517326.1:p.Gly850Val
XM_011519025.1:c.2525G>T XP_011517327.1:p.Gly842Val
XM_011519026.1:c.2483G>T XP_011517328.1:p.Gly828Val
XM_011519027.1:c.2627G>T XP_011517329.1:p.Gly876Val
XM_011519029.1:c.1049G>T XP_011517331.1:p.Gly350Val
XM_011519029.3:c.1049G>T XP_011517331.1:p.Gly350Val
XM_011519030.1:c.401G>T XP_011517332.1:p.Gly134Val
XM_011519030.3:c.401G>T XP_011517332.1:p.Gly134Val
XM_011519031.1:c.188G>T XP_011517333.1:p.Gly63Val
XM_011519032.1:c.188G>T XP_011517334.1:p.Gly63Val
XM_011519033.1:c.2462G>T XP_011517335.1:p.Gly821Val
XM_017015134.1:c.2603G>T XP_016870623.1:p.Gly868Val
XM_017015136.2:c.2519G>T XP_016870625.1:p.Gly840Val
XM_017015137.1:c.2504G>T XP_016870626.1:p.Gly835Val
XM_017015138.1:c.2504G>T XP_016870627.1:p.Gly835Val
XM_024447674.1:c.2447G>T XP_024303442.1:p.Gly816Val
XM_024447675.1:c.2381G>T XP_024303443.1:p.Gly794Val
XM_024447676.1:c.1742G>T XP_024303444.1:p.Gly581Val
XM_024447677.1:c.1742G>T XP_024303445.1:p.Gly581Val
XM_024447678.1:c.2525G>T XP_024303446.1:p.Gly842Val
XM_024447680.1:c.2360G>T XP_024303448.1:p.Gly787Val