Canonical Allele Identifier: CA375783545

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137834874G>A , CM000671.2:g.137834874G>A	GRCh38
NC_000009.11:g.140729326G>A , CM000671.1:g.140729326G>A	GRCh37
NC_000009.10:g.139849147G>A	NCBI36
NG_011776.1:g.220883G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3818G>A MANE Select	NP_079033.4:p.Arg1273His
ENST00000460843.6:c.3818G>A MANE Select	ENSP00000417980.1:p.Arg1273His
NM_001354263.1:c.3797G>A	NP_001341192.1:p.Arg1266His
NM_001354263.2:c.3797G>A	NP_001341192.1:p.Arg1266His
NM_024757.4:c.3818G>A	NP_079033.4:p.Arg1273His
ENST00000460843.5:c.3818G>A	ENSP00000417980.1:p.Arg1273His
ENST00000462942.3:c.2398-11686G>A	ENSP00000436107.1:n.2398-11686G>A
ENST00000472849.1:n.590G>A
ENST00000475564.5:n.1542G>A
ENST00000475704.2:n.548G>A
ENST00000494249.5:n.1171G>A
ENST00000637161.1:c.3725G>A	ENSP00000490328.1:p.Arg1242His
ENST00000637748.1:n.799G>A
ENST00000637891.1:c.1892G>A	ENSP00000490907.1:n.1892G>A
XM_005266105.3:c.3809G>A	XP_005266162.1:p.Arg1270His
XM_005266105.5:c.3809G>A	XP_005266162.1:p.Arg1270His
XM_005266110.1:c.3725G>A	XP_005266167.1:p.Arg1242His
XM_006717288.2:c.3800G>A	XP_006717351.1:p.Arg1267His
XM_011519021.1:c.3827G>A	XP_011517323.1:p.Arg1276His
XM_011519021.3:c.3827G>A	XP_011517323.1:p.Arg1276His
XM_011519022.1:c.3824G>A	XP_011517324.1:p.Arg1275His
XM_011519022.3:c.3824G>A	XP_011517324.1:p.Arg1275His
XM_011519023.1:c.3806G>A	XP_011517325.1:p.Arg1269His
XM_011519023.3:c.3806G>A	XP_011517325.1:p.Arg1269His
XM_011519024.1:c.3749G>A	XP_011517326.1:p.Arg1250His
XM_011519025.1:c.3725G>A	XP_011517327.1:p.Arg1242His
XM_011519026.1:c.3683G>A	XP_011517328.1:p.Arg1228His
XM_011519029.1:c.2249G>A	XP_011517331.1:p.Arg750His
XM_011519029.3:c.2249G>A	XP_011517331.1:p.Arg750His
XM_011519030.1:c.1601G>A	XP_011517332.1:p.Arg534His
XM_011519030.3:c.1601G>A	XP_011517332.1:p.Arg534His
XM_011519031.1:c.1388G>A	XP_011517333.1:p.Arg463His
XM_011519032.1:c.1388G>A	XP_011517334.1:p.Arg463His
XM_011519033.1:c.3662G>A	XP_011517335.1:p.Arg1221His
XM_017015134.1:c.3803G>A	XP_016870623.1:p.Arg1268His
XM_017015136.2:c.3719G>A	XP_016870625.1:p.Arg1240His
XM_017015137.1:c.3704G>A	XP_016870626.1:p.Arg1235His
XM_017015138.1:c.3704G>A	XP_016870627.1:p.Arg1235His
XM_024447674.1:c.3647G>A	XP_024303442.1:p.Arg1216His
XM_024447675.1:c.3581G>A	XP_024303443.1:p.Arg1194His
XM_024447676.1:c.2942G>A	XP_024303444.1:p.Arg981His
XM_024447677.1:c.2942G>A	XP_024303445.1:p.Arg981His
XM_024447680.1:c.3560G>A	XP_024303448.1:p.Arg1187His