Canonical Allele Identifier: CA5374539

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137752373G>A , CM000671.2:g.137752373G>A	GRCh38
NC_000009.11:g.140646825G>A , CM000671.1:g.140646825G>A	GRCh37
NC_000009.10:g.139766646G>A	NCBI36
NG_011776.1:g.138382G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.1213G>A MANE Select	NP_079033.4:p.Gly405Arg
ENST00000460843.6:c.1213G>A MANE Select	ENSP00000417980.1:p.Gly405Arg
NM_001145527.1:c.1213G>A	NP_001138999.1:p.Gly405Arg
NM_001145527.2:c.1213G>A	NP_001138999.1:p.Gly405Arg
NM_001354259.1:c.1120G>A	NP_001341188.1:p.Gly374Arg
NM_001354259.2:c.1120G>A	NP_001341188.1:p.Gly374Arg
NM_001354263.1:c.1192G>A	NP_001341192.1:p.Gly398Arg
NM_001354263.2:c.1192G>A	NP_001341192.1:p.Gly398Arg
NM_001354611.1:c.1213G>A	NP_001341540.1:p.Gly405Arg
NM_001354611.2:c.1213G>A	NP_001341540.1:p.Gly405Arg
NM_001354612.1:c.1120G>A	NP_001341541.1:p.Gly374Arg
NM_001354612.2:c.1120G>A	NP_001341541.1:p.Gly374Arg
NM_024757.4:c.1213G>A	NP_079033.4:p.Gly405Arg
ENST00000371394.6:c.*948G>A	ENSP00000485945.1:n.*948G>A
ENST00000460843.5:c.1213G>A	ENSP00000417980.1:p.Gly405Arg
ENST00000462484.5:c.1213G>A	ENSP00000417328.1:p.Gly405Arg
ENST00000462942.3:c.70G>A	ENSP00000436107.1:p.Gly24Arg
ENST00000495657.5:n.563G>A
ENST00000626066.2:c.1116G>A
ENST00000629335.2:c.1213G>A	ENSP00000490056.1:p.Gly405Arg
ENST00000629808.2:c.342-1798G>A
ENST00000636027.1:c.1099G>A	ENSP00000489961.1:p.Gly367Arg
ENST00000637161.1:c.1120G>A	ENSP00000490328.1:p.Gly374Arg
ENST00000637261.1:c.1253G>A	ENSP00000490815.1:n.1253G>A
ENST00000637977.1:c.1158G>A
ENST00000638071.1:c.876-1798G>A
ENST00000640639.1:c.382G>A	ENSP00000491823.1:p.Gly128Arg
XM_005266105.3:c.1204G>A	XP_005266162.1:p.Gly402Arg
XM_005266105.5:c.1204G>A	XP_005266162.1:p.Gly402Arg
XM_005266110.1:c.1120G>A	XP_005266167.1:p.Gly374Arg
XM_006717288.2:c.1195G>A	XP_006717351.1:p.Gly399Arg
XM_011519021.1:c.1222G>A	XP_011517323.1:p.Gly408Arg
XM_011519021.3:c.1222G>A	XP_011517323.1:p.Gly408Arg
XM_011519022.1:c.1219G>A	XP_011517324.1:p.Gly407Arg
XM_011519022.3:c.1219G>A	XP_011517324.1:p.Gly407Arg
XM_011519023.1:c.1201G>A	XP_011517325.1:p.Gly401Arg
XM_011519023.3:c.1201G>A	XP_011517325.1:p.Gly401Arg
XM_011519024.1:c.1180-1798G>A	XP_011517326.1:n.1180-1798G>A
XM_011519025.1:c.1120G>A	XP_011517327.1:p.Gly374Arg
XM_011519026.1:c.1222G>A	XP_011517328.1:p.Gly408Arg
XM_011519027.1:c.1222G>A	XP_011517329.1:p.Gly408Arg
XM_011519028.1:c.1222G>A	XP_011517330.1:p.Gly408Arg
XM_011519033.1:c.1201G>A	XP_011517335.1:p.Gly401Arg
XM_017015134.1:c.1198G>A	XP_016870623.1:p.Gly400Arg
XM_017015136.2:c.1150-1798G>A	XP_016870625.1:n.1150-1798G>A
XM_017015137.1:c.1099G>A	XP_016870626.1:p.Gly367Arg
XM_017015138.1:c.1099G>A	XP_016870627.1:p.Gly367Arg
XM_024447674.1:c.1078-1798G>A	XP_024303442.1:n.1078-1798G>A
XM_024447675.1:c.1120G>A	XP_024303443.1:p.Gly374Arg
XM_024447676.1:c.337G>A	XP_024303444.1:p.Gly113Arg
XM_024447677.1:c.337G>A	XP_024303445.1:p.Gly113Arg
XM_024447678.1:c.1120G>A	XP_024303446.1:p.Gly374Arg
XM_024447679.1:c.1120G>A	XP_024303447.1:p.Gly374Arg
XM_024447680.1:c.1099G>A	XP_024303448.1:p.Gly367Arg