Canonical Allele Identifier: CA5375098

Gene: EHMT1

Linked Data

• dbSNP Id: rs756328916
• ExAC: 9:140707469 C / A
• gnomAD v2: 9-140707469-C-A
• gnomAD v4: 9-137813017-C-A
• MyVariant Identifiers: chr9:g.140707469C>A (hg19) ; chr9:g.137813017C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813017C>A , CM000671.2:g.137813017C>A	GRCh38
NC_000009.11:g.140707469C>A , CM000671.1:g.140707469C>A	GRCh37
NC_000009.10:g.139827290C>A	NCBI36
NG_011776.1:g.199026C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2879C>A MANE Select	ENSP00000417980.1:p.Ser960Tyr
ENST00000636027.1:c.2765C>A	ENSP00000489961.1:p.Ser922Tyr
ENST00000637161.1:c.2786C>A	ENSP00000490328.1:p.Ser929Tyr
ENST00000637261.1:c.2919C>A	ENSP00000490815.1:n.2919C>A
ENST00000637891.1:c.773C>A	ENSP00000490907.1:p.Ser258Tyr
ENST00000460843.5:c.2879C>A	ENSP00000417980.1:p.Ser960Tyr
ENST00000462942.3:c.1736C>A	ENSP00000436107.1:p.Ser579Tyr
ENST00000486164.5:c.566C>A
ENST00000488242.2:n.405C>A
NM_024757.4:c.2879C>A	NP_079033.4:p.Ser960Tyr
XM_005266105.3:c.2870C>A	XP_005266162.1:p.Ser957Tyr
XM_005266110.1:c.2786C>A	XP_005266167.1:p.Ser929Tyr
XM_006717288.2:c.2861C>A	XP_006717351.1:p.Ser954Tyr
XM_011519021.1:c.2888C>A	XP_011517323.1:p.Ser963Tyr
XM_011519022.1:c.2885C>A	XP_011517324.1:p.Ser962Tyr
XM_011519023.1:c.2867C>A	XP_011517325.1:p.Ser956Tyr
XM_011519024.1:c.2810C>A	XP_011517326.1:p.Ser937Tyr
XM_011519025.1:c.2786C>A	XP_011517327.1:p.Ser929Tyr
XM_011519026.1:c.2744C>A	XP_011517328.1:p.Ser915Tyr
XM_011519029.1:c.1310C>A	XP_011517331.1:p.Ser437Tyr
XM_011519030.1:c.662C>A	XP_011517332.1:p.Ser221Tyr
XM_011519031.1:c.449C>A	XP_011517333.1:p.Ser150Tyr
XM_011519032.1:c.449C>A	XP_011517334.1:p.Ser150Tyr
XM_011519033.1:c.2723C>A	XP_011517335.1:p.Ser908Tyr
NM_001354263.1:c.2858C>A	NP_001341192.1:p.Ser953Tyr
XM_005266105.5:c.2870C>A	XP_005266162.1:p.Ser957Tyr
XM_011519021.3:c.2888C>A	XP_011517323.1:p.Ser963Tyr
XM_011519022.3:c.2885C>A	XP_011517324.1:p.Ser962Tyr
XM_011519023.3:c.2867C>A	XP_011517325.1:p.Ser956Tyr
XM_011519029.3:c.1310C>A	XP_011517331.1:p.Ser437Tyr
XM_011519030.3:c.662C>A	XP_011517332.1:p.Ser221Tyr
XM_017015134.1:c.2864C>A	XP_016870623.1:p.Ser955Tyr
XM_017015136.2:c.2780C>A	XP_016870625.1:p.Ser927Tyr
XM_017015137.1:c.2765C>A	XP_016870626.1:p.Ser922Tyr
XM_017015138.1:c.2765C>A	XP_016870627.1:p.Ser922Tyr
XM_024447674.1:c.2708C>A	XP_024303442.1:p.Ser903Tyr
XM_024447675.1:c.2642C>A	XP_024303443.1:p.Ser881Tyr
XM_024447676.1:c.2003C>A	XP_024303444.1:p.Ser668Tyr
XM_024447677.1:c.2003C>A	XP_024303445.1:p.Ser668Tyr
XM_024447680.1:c.2621C>A	XP_024303448.1:p.Ser874Tyr
NM_024757.5:c.2879C>A MANE Select	NP_079033.4:p.Ser960Tyr
NM_001354263.2:c.2858C>A	NP_001341192.1:p.Ser953Tyr