Canonical Allele Identifier: CA5375015

Gene: EHMT1

Linked Data

• dbSNP Id: rs752983885
• ExAC: 9:140695342 G / C
• gnomAD v2: 9-140695342-G-C
• gnomAD v4: 9-137800890-G-C
• MyVariant Identifiers: chr9:g.140695342G>C (hg19) ; chr9:g.137800890G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800890G>C , CM000671.2:g.137800890G>C	GRCh38
NC_000009.11:g.140695342G>C , CM000671.1:g.140695342G>C	GRCh37
NC_000009.10:g.139815163G>C	NCBI36
NG_011776.1:g.186899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2618G>C MANE Select	ENSP00000417980.1:p.Gly873Ala
ENST00000636027.1:c.2504G>C	ENSP00000489961.1:p.Gly835Ala
ENST00000637161.1:c.2525G>C	ENSP00000490328.1:p.Gly842Ala
ENST00000637261.1:c.2658G>C	ENSP00000490815.1:n.2658G>C
ENST00000637891.1:c.512G>C	ENSP00000490907.1:p.Gly171Ala
ENST00000637949.1:c.296G>C	ENSP00000489786.1:p.Gly99Ala
ENST00000460843.5:c.2618G>C	ENSP00000417980.1:p.Gly873Ala
ENST00000462942.3:c.1475G>C	ENSP00000436107.1:p.Gly492Ala
ENST00000482340.5:c.188G>C	ENSP00000486748.1:p.Gly63Ala
ENST00000486164.5:c.196G>C
ENST00000488242.2:n.144G>C
ENST00000493484.5:c.188G>C	ENSP00000486503.1:p.Gly63Ala
NM_024757.4:c.2618G>C	NP_079033.4:p.Gly873Ala
XM_005266105.3:c.2609G>C	XP_005266162.1:p.Gly870Ala
XM_005266110.1:c.2525G>C	XP_005266167.1:p.Gly842Ala
XM_006717288.2:c.2600G>C	XP_006717351.1:p.Gly867Ala
XM_011519021.1:c.2627G>C	XP_011517323.1:p.Gly876Ala
XM_011519022.1:c.2624G>C	XP_011517324.1:p.Gly875Ala
XM_011519023.1:c.2606G>C	XP_011517325.1:p.Gly869Ala
XM_011519024.1:c.2549G>C	XP_011517326.1:p.Gly850Ala
XM_011519025.1:c.2525G>C	XP_011517327.1:p.Gly842Ala
XM_011519026.1:c.2483G>C	XP_011517328.1:p.Gly828Ala
XM_011519027.1:c.2627G>C	XP_011517329.1:p.Gly876Ala
XM_011519029.1:c.1049G>C	XP_011517331.1:p.Gly350Ala
XM_011519030.1:c.401G>C	XP_011517332.1:p.Gly134Ala
XM_011519031.1:c.188G>C	XP_011517333.1:p.Gly63Ala
XM_011519032.1:c.188G>C	XP_011517334.1:p.Gly63Ala
XM_011519033.1:c.2462G>C	XP_011517335.1:p.Gly821Ala
NM_001354263.1:c.2597G>C	NP_001341192.1:p.Gly866Ala
XM_005266105.5:c.2609G>C	XP_005266162.1:p.Gly870Ala
XM_011519021.3:c.2627G>C	XP_011517323.1:p.Gly876Ala
XM_011519022.3:c.2624G>C	XP_011517324.1:p.Gly875Ala
XM_011519023.3:c.2606G>C	XP_011517325.1:p.Gly869Ala
XM_011519029.3:c.1049G>C	XP_011517331.1:p.Gly350Ala
XM_011519030.3:c.401G>C	XP_011517332.1:p.Gly134Ala
XM_017015134.1:c.2603G>C	XP_016870623.1:p.Gly868Ala
XM_017015136.2:c.2519G>C	XP_016870625.1:p.Gly840Ala
XM_017015137.1:c.2504G>C	XP_016870626.1:p.Gly835Ala
XM_017015138.1:c.2504G>C	XP_016870627.1:p.Gly835Ala
XM_024447674.1:c.2447G>C	XP_024303442.1:p.Gly816Ala
XM_024447675.1:c.2381G>C	XP_024303443.1:p.Gly794Ala
XM_024447676.1:c.1742G>C	XP_024303444.1:p.Gly581Ala
XM_024447677.1:c.1742G>C	XP_024303445.1:p.Gly581Ala
XM_024447678.1:c.2525G>C	XP_024303446.1:p.Gly842Ala
XM_024447680.1:c.2360G>C	XP_024303448.1:p.Gly787Ala
NM_024757.5:c.2618G>C MANE Select	NP_079033.4:p.Gly873Ala
NM_001354263.2:c.2597G>C	NP_001341192.1:p.Gly866Ala