Canonical Allele Identifier: CA5375404

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137834440G>A , CM000671.2:g.137834440G>A	GRCh38
NC_000009.11:g.140728892G>A , CM000671.1:g.140728892G>A	GRCh37
NC_000009.10:g.139848713G>A	NCBI36
NG_011776.1:g.220449G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3632G>A MANE Select	NP_079033.4:p.Arg1211His
ENST00000460843.6:c.3632G>A MANE Select	ENSP00000417980.1:p.Arg1211His
NM_001354263.1:c.3611G>A	NP_001341192.1:p.Arg1204His
NM_001354263.2:c.3611G>A	NP_001341192.1:p.Arg1204His
NM_024757.4:c.3632G>A	NP_079033.4:p.Arg1211His
ENST00000460843.5:c.3632G>A	ENSP00000417980.1:p.Arg1211His
ENST00000462942.3:c.2398-12120G>A	ENSP00000436107.1:n.2398-12120G>A
ENST00000472849.1:n.404G>A
ENST00000475564.5:n.1356G>A
ENST00000475704.2:n.362G>A
ENST00000494249.5:n.985G>A
ENST00000637161.1:c.3539G>A	ENSP00000490328.1:p.Arg1180His
ENST00000637261.1:c.4206G>A	ENSP00000490815.1:n.4206G>A
ENST00000637748.1:n.613G>A
ENST00000637891.1:c.1706G>A	ENSP00000490907.1:n.1706G>A
XM_005266105.3:c.3623G>A	XP_005266162.1:p.Arg1208His
XM_005266105.5:c.3623G>A	XP_005266162.1:p.Arg1208His
XM_005266110.1:c.3539G>A	XP_005266167.1:p.Arg1180His
XM_006717288.2:c.3614G>A	XP_006717351.1:p.Arg1205His
XM_011519021.1:c.3641G>A	XP_011517323.1:p.Arg1214His
XM_011519021.3:c.3641G>A	XP_011517323.1:p.Arg1214His
XM_011519022.1:c.3638G>A	XP_011517324.1:p.Arg1213His
XM_011519022.3:c.3638G>A	XP_011517324.1:p.Arg1213His
XM_011519023.1:c.3620G>A	XP_011517325.1:p.Arg1207His
XM_011519023.3:c.3620G>A	XP_011517325.1:p.Arg1207His
XM_011519024.1:c.3563G>A	XP_011517326.1:p.Arg1188His
XM_011519025.1:c.3539G>A	XP_011517327.1:p.Arg1180His
XM_011519026.1:c.3497G>A	XP_011517328.1:p.Arg1166His
XM_011519029.1:c.2063G>A	XP_011517331.1:p.Arg688His
XM_011519029.3:c.2063G>A	XP_011517331.1:p.Arg688His
XM_011519030.1:c.1415G>A	XP_011517332.1:p.Arg472His
XM_011519030.3:c.1415G>A	XP_011517332.1:p.Arg472His
XM_011519031.1:c.1202G>A	XP_011517333.1:p.Arg401His
XM_011519032.1:c.1202G>A	XP_011517334.1:p.Arg401His
XM_011519033.1:c.3476G>A	XP_011517335.1:p.Arg1159His
XM_017015134.1:c.3617G>A	XP_016870623.1:p.Arg1206His
XM_017015136.2:c.3533G>A	XP_016870625.1:p.Arg1178His
XM_017015137.1:c.3518G>A	XP_016870626.1:p.Arg1173His
XM_017015138.1:c.3518G>A	XP_016870627.1:p.Arg1173His
XM_024447674.1:c.3461G>A	XP_024303442.1:p.Arg1154His
XM_024447675.1:c.3395G>A	XP_024303443.1:p.Arg1132His
XM_024447676.1:c.2756G>A	XP_024303444.1:p.Arg919His
XM_024447677.1:c.2756G>A	XP_024303445.1:p.Arg919His
XM_024447680.1:c.3374G>A	XP_024303448.1:p.Arg1125His