Canonical Allele Identifier: CA5375168

Gene: EHMT1

Linked Data

• dbSNP Id: rs751689390
• ExAC: 9:140707916 C / T
• gnomAD v2: 9-140707916-C-T
• gnomAD v4: 9-137813464-C-T
• MyVariant Identifiers: chr9:g.140707916C>T (hg19) ; chr9:g.137813464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813464C>T , CM000671.2:g.137813464C>T	GRCh38
NC_000009.11:g.140707916C>T , CM000671.1:g.140707916C>T	GRCh37
NC_000009.10:g.139827737C>T	NCBI36
NG_011776.1:g.199473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3114C>T MANE Select	ENSP00000417980.1:p.Tyr1038=
ENST00000637161.1:c.3021C>T	ENSP00000490328.1:p.Tyr1007=
ENST00000637261.1:c.3154C>T	ENSP00000490815.1:n.3154C>T
ENST00000637891.1:c.1008C>T	ENSP00000490907.1:p.Tyr336=
ENST00000460843.5:c.3114C>T	ENSP00000417980.1:p.Tyr1038=
ENST00000462942.3:c.1971C>T	ENSP00000436107.1:p.Tyr657=
ENST00000488242.2:n.640C>T
NM_024757.4:c.3114C>T	NP_079033.4:p.Tyr1038=
XM_005266105.3:c.3105C>T	XP_005266162.1:p.Tyr1035=
XM_005266110.1:c.3021C>T	XP_005266167.1:p.Tyr1007=
XM_006717288.2:c.3096C>T	XP_006717351.1:p.Tyr1032=
XM_011519021.1:c.3123C>T	XP_011517323.1:p.Tyr1041=
XM_011519022.1:c.3120C>T	XP_011517324.1:p.Tyr1040=
XM_011519023.1:c.3102C>T	XP_011517325.1:p.Tyr1034=
XM_011519024.1:c.3045C>T	XP_011517326.1:p.Tyr1015=
XM_011519025.1:c.3021C>T	XP_011517327.1:p.Tyr1007=
XM_011519026.1:c.2979C>T	XP_011517328.1:p.Tyr993=
XM_011519029.1:c.1545C>T	XP_011517331.1:p.Tyr515=
XM_011519030.1:c.897C>T	XP_011517332.1:p.Tyr299=
XM_011519031.1:c.684C>T	XP_011517333.1:p.Tyr228=
XM_011519032.1:c.684C>T	XP_011517334.1:p.Tyr228=
XM_011519033.1:c.2958C>T	XP_011517335.1:p.Tyr986=
NM_001354263.1:c.3093C>T	NP_001341192.1:p.Tyr1031=
XM_005266105.5:c.3105C>T	XP_005266162.1:p.Tyr1035=
XM_011519021.3:c.3123C>T	XP_011517323.1:p.Tyr1041=
XM_011519022.3:c.3120C>T	XP_011517324.1:p.Tyr1040=
XM_011519023.3:c.3102C>T	XP_011517325.1:p.Tyr1034=
XM_011519029.3:c.1545C>T	XP_011517331.1:p.Tyr515=
XM_011519030.3:c.897C>T	XP_011517332.1:p.Tyr299=
XM_017015134.1:c.3099C>T	XP_016870623.1:p.Tyr1033=
XM_017015136.2:c.3015C>T	XP_016870625.1:p.Tyr1005=
XM_017015137.1:c.3000C>T	XP_016870626.1:p.Tyr1000=
XM_017015138.1:c.3000C>T	XP_016870627.1:p.Tyr1000=
XM_024447674.1:c.2943C>T	XP_024303442.1:p.Tyr981=
XM_024447675.1:c.2877C>T	XP_024303443.1:p.Tyr959=
XM_024447676.1:c.2238C>T	XP_024303444.1:p.Tyr746=
XM_024447677.1:c.2238C>T	XP_024303445.1:p.Tyr746=
XM_024447680.1:c.2856C>T	XP_024303448.1:p.Tyr952=
NM_024757.5:c.3114C>T MANE Select	NP_079033.4:p.Tyr1038=
NM_001354263.2:c.3093C>T	NP_001341192.1:p.Tyr1031=