Canonical Allele Identifier: CA375793348

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813050-A-G
• MyVariant Identifiers: chr9:g.140707502A>G (hg19) ; chr9:g.137813050A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813050A>G , CM000671.2:g.137813050A>G	GRCh38
NC_000009.11:g.140707502A>G , CM000671.1:g.140707502A>G	GRCh37
NC_000009.10:g.139827323A>G	NCBI36
NG_011776.1:g.199059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2912A>G MANE Select	ENSP00000417980.1:p.Glu971Gly
ENST00000636027.1:c.2798A>G	ENSP00000489961.1:p.Glu933Gly
ENST00000637161.1:c.2819A>G	ENSP00000490328.1:p.Glu940Gly
ENST00000637261.1:c.2952A>G	ENSP00000490815.1:n.2952A>G
ENST00000637891.1:c.806A>G	ENSP00000490907.1:p.Glu269Gly
ENST00000460843.5:c.2912A>G	ENSP00000417980.1:p.Glu971Gly
ENST00000462942.3:c.1769A>G	ENSP00000436107.1:p.Glu590Gly
ENST00000486164.5:c.599A>G
ENST00000488242.2:n.438A>G
NM_024757.4:c.2912A>G	NP_079033.4:p.Glu971Gly
XM_005266105.3:c.2903A>G	XP_005266162.1:p.Glu968Gly
XM_005266110.1:c.2819A>G	XP_005266167.1:p.Glu940Gly
XM_006717288.2:c.2894A>G	XP_006717351.1:p.Glu965Gly
XM_011519021.1:c.2921A>G	XP_011517323.1:p.Glu974Gly
XM_011519022.1:c.2918A>G	XP_011517324.1:p.Glu973Gly
XM_011519023.1:c.2900A>G	XP_011517325.1:p.Glu967Gly
XM_011519024.1:c.2843A>G	XP_011517326.1:p.Glu948Gly
XM_011519025.1:c.2819A>G	XP_011517327.1:p.Glu940Gly
XM_011519026.1:c.2777A>G	XP_011517328.1:p.Glu926Gly
XM_011519029.1:c.1343A>G	XP_011517331.1:p.Glu448Gly
XM_011519030.1:c.695A>G	XP_011517332.1:p.Glu232Gly
XM_011519031.1:c.482A>G	XP_011517333.1:p.Glu161Gly
XM_011519032.1:c.482A>G	XP_011517334.1:p.Glu161Gly
XM_011519033.1:c.2756A>G	XP_011517335.1:p.Glu919Gly
NM_001354263.1:c.2891A>G	NP_001341192.1:p.Glu964Gly
XM_005266105.5:c.2903A>G	XP_005266162.1:p.Glu968Gly
XM_011519021.3:c.2921A>G	XP_011517323.1:p.Glu974Gly
XM_011519022.3:c.2918A>G	XP_011517324.1:p.Glu973Gly
XM_011519023.3:c.2900A>G	XP_011517325.1:p.Glu967Gly
XM_011519029.3:c.1343A>G	XP_011517331.1:p.Glu448Gly
XM_011519030.3:c.695A>G	XP_011517332.1:p.Glu232Gly
XM_017015134.1:c.2897A>G	XP_016870623.1:p.Glu966Gly
XM_017015136.2:c.2813A>G	XP_016870625.1:p.Glu938Gly
XM_017015137.1:c.2798A>G	XP_016870626.1:p.Glu933Gly
XM_017015138.1:c.2798A>G	XP_016870627.1:p.Glu933Gly
XM_024447674.1:c.2741A>G	XP_024303442.1:p.Glu914Gly
XM_024447675.1:c.2675A>G	XP_024303443.1:p.Glu892Gly
XM_024447676.1:c.2036A>G	XP_024303444.1:p.Glu679Gly
XM_024447677.1:c.2036A>G	XP_024303445.1:p.Glu679Gly
XM_024447680.1:c.2654A>G	XP_024303448.1:p.Glu885Gly
NM_024757.5:c.2912A>G MANE Select	NP_079033.4:p.Glu971Gly
NM_001354263.2:c.2891A>G	NP_001341192.1:p.Glu964Gly