Canonical Allele Identifier: CA5375153
Community Standard Title: NM_024757.5(EHMT1):c.3058C>T (p.Arg1020Cys)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813408C>T , CM000671.2:g.137813408C>T GRCh38
NC_000009.11:g.140707860C>T , CM000671.1:g.140707860C>T GRCh37
NC_000009.10:g.139827681C>T NCBI36
NG_011776.1:g.199417C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3058C>T MANE Select NP_079033.4:p.Arg1020Cys
ENST00000460843.6:c.3058C>T MANE Select ENSP00000417980.1:p.Arg1020Cys
NM_001354263.1:c.3037C>T NP_001341192.1:p.Arg1013Cys
NM_001354263.2:c.3037C>T NP_001341192.1:p.Arg1013Cys
NM_024757.4:c.3058C>T NP_079033.4:p.Arg1020Cys
ENST00000460843.5:c.3058C>T ENSP00000417980.1:p.Arg1020Cys
ENST00000462942.3:c.1915C>T ENSP00000436107.1:p.Arg639Cys
ENST00000486164.5:c.745C>T
ENST00000488242.2:n.584C>T
ENST00000636027.1:c.2944C>T
ENST00000637161.1:c.2965C>T ENSP00000490328.1:p.Arg989Cys
ENST00000637261.1:c.3098C>T ENSP00000490815.1:n.3098C>T
ENST00000637891.1:c.952C>T ENSP00000490907.1:p.Arg318Cys
XM_005266105.3:c.3049C>T XP_005266162.1:p.Arg1017Cys
XM_005266105.5:c.3049C>T XP_005266162.1:p.Arg1017Cys
XM_005266110.1:c.2965C>T XP_005266167.1:p.Arg989Cys
XM_006717288.2:c.3040C>T XP_006717351.1:p.Arg1014Cys
XM_011519021.1:c.3067C>T XP_011517323.1:p.Arg1023Cys
XM_011519021.3:c.3067C>T XP_011517323.1:p.Arg1023Cys
XM_011519022.1:c.3064C>T XP_011517324.1:p.Arg1022Cys
XM_011519022.3:c.3064C>T XP_011517324.1:p.Arg1022Cys
XM_011519023.1:c.3046C>T XP_011517325.1:p.Arg1016Cys
XM_011519023.3:c.3046C>T XP_011517325.1:p.Arg1016Cys
XM_011519024.1:c.2989C>T XP_011517326.1:p.Arg997Cys
XM_011519025.1:c.2965C>T XP_011517327.1:p.Arg989Cys
XM_011519026.1:c.2923C>T XP_011517328.1:p.Arg975Cys
XM_011519029.1:c.1489C>T XP_011517331.1:p.Arg497Cys
XM_011519029.3:c.1489C>T XP_011517331.1:p.Arg497Cys
XM_011519030.1:c.841C>T XP_011517332.1:p.Arg281Cys
XM_011519030.3:c.841C>T XP_011517332.1:p.Arg281Cys
XM_011519031.1:c.628C>T XP_011517333.1:p.Arg210Cys
XM_011519032.1:c.628C>T XP_011517334.1:p.Arg210Cys
XM_011519033.1:c.2902C>T XP_011517335.1:p.Arg968Cys
XM_017015134.1:c.3043C>T XP_016870623.1:p.Arg1015Cys
XM_017015136.2:c.2959C>T XP_016870625.1:p.Arg987Cys
XM_017015137.1:c.2944C>T XP_016870626.1:p.Arg982Cys
XM_017015138.1:c.2944C>T XP_016870627.1:p.Arg982Cys
XM_024447674.1:c.2887C>T XP_024303442.1:p.Arg963Cys
XM_024447675.1:c.2821C>T XP_024303443.1:p.Arg941Cys
XM_024447676.1:c.2182C>T XP_024303444.1:p.Arg728Cys
XM_024447677.1:c.2182C>T XP_024303445.1:p.Arg728Cys
XM_024447680.1:c.2800C>T XP_024303448.1:p.Arg934Cys