Canonical Allele Identifier: CA5375106

Gene: EHMT1

Linked Data

• dbSNP Id: rs761061204
• ExAC: 9:140707526 C / G
• gnomAD v2: 9-140707526-C-G
• gnomAD v4: 9-137813074-C-G
• MyVariant Identifiers: chr9:g.140707526C>G (hg19) ; chr9:g.137813074C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813074C>G , CM000671.2:g.137813074C>G	GRCh38
NC_000009.11:g.140707526C>G , CM000671.1:g.140707526C>G	GRCh37
NC_000009.10:g.139827347C>G	NCBI36
NG_011776.1:g.199083C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2936C>G MANE Select	ENSP00000417980.1:p.Ala979Gly
ENST00000636027.1:c.2822C>G	ENSP00000489961.1:p.Ala941Gly
ENST00000637161.1:c.2843C>G	ENSP00000490328.1:p.Ala948Gly
ENST00000637261.1:c.2976C>G	ENSP00000490815.1:n.2976C>G
ENST00000637891.1:c.830C>G	ENSP00000490907.1:p.Ala277Gly
ENST00000460843.5:c.2936C>G	ENSP00000417980.1:p.Ala979Gly
ENST00000462942.3:c.1793C>G	ENSP00000436107.1:p.Ala598Gly
ENST00000486164.5:c.623C>G
ENST00000488242.2:n.462C>G
NM_024757.4:c.2936C>G	NP_079033.4:p.Ala979Gly
XM_005266105.3:c.2927C>G	XP_005266162.1:p.Ala976Gly
XM_005266110.1:c.2843C>G	XP_005266167.1:p.Ala948Gly
XM_006717288.2:c.2918C>G	XP_006717351.1:p.Ala973Gly
XM_011519021.1:c.2945C>G	XP_011517323.1:p.Ala982Gly
XM_011519022.1:c.2942C>G	XP_011517324.1:p.Ala981Gly
XM_011519023.1:c.2924C>G	XP_011517325.1:p.Ala975Gly
XM_011519024.1:c.2867C>G	XP_011517326.1:p.Ala956Gly
XM_011519025.1:c.2843C>G	XP_011517327.1:p.Ala948Gly
XM_011519026.1:c.2801C>G	XP_011517328.1:p.Ala934Gly
XM_011519029.1:c.1367C>G	XP_011517331.1:p.Ala456Gly
XM_011519030.1:c.719C>G	XP_011517332.1:p.Ala240Gly
XM_011519031.1:c.506C>G	XP_011517333.1:p.Ala169Gly
XM_011519032.1:c.506C>G	XP_011517334.1:p.Ala169Gly
XM_011519033.1:c.2780C>G	XP_011517335.1:p.Ala927Gly
NM_001354263.1:c.2915C>G	NP_001341192.1:p.Ala972Gly
XM_005266105.5:c.2927C>G	XP_005266162.1:p.Ala976Gly
XM_011519021.3:c.2945C>G	XP_011517323.1:p.Ala982Gly
XM_011519022.3:c.2942C>G	XP_011517324.1:p.Ala981Gly
XM_011519023.3:c.2924C>G	XP_011517325.1:p.Ala975Gly
XM_011519029.3:c.1367C>G	XP_011517331.1:p.Ala456Gly
XM_011519030.3:c.719C>G	XP_011517332.1:p.Ala240Gly
XM_017015134.1:c.2921C>G	XP_016870623.1:p.Ala974Gly
XM_017015136.2:c.2837C>G	XP_016870625.1:p.Ala946Gly
XM_017015137.1:c.2822C>G	XP_016870626.1:p.Ala941Gly
XM_017015138.1:c.2822C>G	XP_016870627.1:p.Ala941Gly
XM_024447674.1:c.2765C>G	XP_024303442.1:p.Ala922Gly
XM_024447675.1:c.2699C>G	XP_024303443.1:p.Ala900Gly
XM_024447676.1:c.2060C>G	XP_024303444.1:p.Ala687Gly
XM_024447677.1:c.2060C>G	XP_024303445.1:p.Ala687Gly
XM_024447680.1:c.2678C>G	XP_024303448.1:p.Ala893Gly
NM_024757.5:c.2936C>G MANE Select	NP_079033.4:p.Ala979Gly
NM_001354263.2:c.2915C>G	NP_001341192.1:p.Ala972Gly