Canonical Allele Identifier: CA1884697318
Community Standard Title: NM_024757.5(EHMT1):c.3589C= (p.Arg1197=)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137834397C= , CM000671.2:g.137834397C= GRCh38
NC_000009.11:g.140728849C= , CM000671.1:g.140728849C= GRCh37
NC_000009.10:g.139848670C= NCBI36
NG_011776.1:g.220406C=

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3589C= MANE Select NP_079033.4:p.Arg1197=
ENST00000460843.6:c.3589C= MANE Select ENSP00000417980.1:p.Arg1197=
NM_001354263.1:c.3568C= NP_001341192.1:p.Arg1190=
NM_001354263.2:c.3568C= NP_001341192.1:p.Arg1190=
NM_024757.4:c.3589C= NP_079033.4:p.Arg1197=
ENST00000460843.5:c.3589C= ENSP00000417980.1:p.Arg1197=
ENST00000462942.3:c.2398-12163C= ENSP00000436107.1:n.2398-12163C=
ENST00000472849.1:n.361C=
ENST00000475564.5:n.1313C=
ENST00000475704.2:n.319C=
ENST00000494249.5:n.942C=
ENST00000637161.1:c.3496C= ENSP00000490328.1:p.Arg1166=
ENST00000637261.1:c.4163C= ENSP00000490815.1:n.4163C=
ENST00000637748.1:n.570C=
ENST00000637891.1:c.1663C= ENSP00000490907.1:n.1663C=
XM_005266105.3:c.3580C= XP_005266162.1:p.Arg1194=
XM_005266105.5:c.3580C= XP_005266162.1:p.Arg1194=
XM_005266110.1:c.3496C= XP_005266167.1:p.Arg1166=
XM_006717288.2:c.3571C= XP_006717351.1:p.Arg1191=
XM_011519021.1:c.3598C= XP_011517323.1:p.Arg1200=
XM_011519021.3:c.3598C= XP_011517323.1:p.Arg1200=
XM_011519022.1:c.3595C= XP_011517324.1:p.Arg1199=
XM_011519022.3:c.3595C= XP_011517324.1:p.Arg1199=
XM_011519023.1:c.3577C= XP_011517325.1:p.Arg1193=
XM_011519023.3:c.3577C= XP_011517325.1:p.Arg1193=
XM_011519024.1:c.3520C= XP_011517326.1:p.Arg1174=
XM_011519025.1:c.3496C= XP_011517327.1:p.Arg1166=
XM_011519026.1:c.3454C= XP_011517328.1:p.Arg1152=
XM_011519029.1:c.2020C= XP_011517331.1:p.Arg674=
XM_011519029.3:c.2020C= XP_011517331.1:p.Arg674=
XM_011519030.1:c.1372C= XP_011517332.1:p.Arg458=
XM_011519030.3:c.1372C= XP_011517332.1:p.Arg458=
XM_011519031.1:c.1159C= XP_011517333.1:p.Arg387=
XM_011519032.1:c.1159C= XP_011517334.1:p.Arg387=
XM_011519033.1:c.3433C= XP_011517335.1:p.Arg1145=
XM_017015134.1:c.3574C= XP_016870623.1:p.Arg1192=
XM_017015136.2:c.3490C= XP_016870625.1:p.Arg1164=
XM_017015137.1:c.3475C= XP_016870626.1:p.Arg1159=
XM_017015138.1:c.3475C= XP_016870627.1:p.Arg1159=
XM_024447674.1:c.3418C= XP_024303442.1:p.Arg1140=
XM_024447675.1:c.3352C= XP_024303443.1:p.Arg1118=
XM_024447676.1:c.2713C= XP_024303444.1:p.Arg905=
XM_024447677.1:c.2713C= XP_024303445.1:p.Arg905=
XM_024447680.1:c.3331C= XP_024303448.1:p.Arg1111=