Canonical Allele Identifier: CA375773746

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137818116-A-C
• MyVariant Identifiers: chr9:g.140712568A>C (hg19) ; chr9:g.137818116A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818116A>C , CM000671.2:g.137818116A>C	GRCh38
NC_000009.11:g.140712568A>C , CM000671.1:g.140712568A>C	GRCh37
NC_000009.10:g.139832389A>C	NCBI36
NG_011776.1:g.204125A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3518A>C MANE Select	ENSP00000417980.1:p.Tyr1173Ser
ENST00000636472.1:n.80A>C
ENST00000636526.1:n.4A>C
ENST00000637161.1:c.3425A>C	ENSP00000490328.1:p.Tyr1142Ser
ENST00000637261.1:c.4092A>C	ENSP00000490815.1:n.4092A>C
ENST00000637748.1:n.499A>C
ENST00000637891.1:c.1592A>C	ENSP00000490907.1:n.1592A>C
ENST00000460843.5:c.3518A>C	ENSP00000417980.1:p.Tyr1173Ser
ENST00000462942.3:c.2375A>C	ENSP00000436107.1:p.Tyr792Ser
ENST00000475564.5:n.1242A>C
ENST00000494249.5:n.871A>C
NM_024757.4:c.3518A>C	NP_079033.4:p.Tyr1173Ser
XM_005266105.3:c.3509A>C	XP_005266162.1:p.Tyr1170Ser
XM_005266110.1:c.3425A>C	XP_005266167.1:p.Tyr1142Ser
XM_006717288.2:c.3500A>C	XP_006717351.1:p.Tyr1167Ser
XM_011519021.1:c.3527A>C	XP_011517323.1:p.Tyr1176Ser
XM_011519022.1:c.3524A>C	XP_011517324.1:p.Tyr1175Ser
XM_011519023.1:c.3506A>C	XP_011517325.1:p.Tyr1169Ser
XM_011519024.1:c.3449A>C	XP_011517326.1:p.Tyr1150Ser
XM_011519025.1:c.3425A>C	XP_011517327.1:p.Tyr1142Ser
XM_011519026.1:c.3383A>C	XP_011517328.1:p.Tyr1128Ser
XM_011519029.1:c.1949A>C	XP_011517331.1:p.Tyr650Ser
XM_011519030.1:c.1301A>C	XP_011517332.1:p.Tyr434Ser
XM_011519031.1:c.1088A>C	XP_011517333.1:p.Tyr363Ser
XM_011519032.1:c.1088A>C	XP_011517334.1:p.Tyr363Ser
XM_011519033.1:c.3362A>C	XP_011517335.1:p.Tyr1121Ser
XR_930459.1:n.5297-3554T>G
NM_001354263.1:c.3497A>C	NP_001341192.1:p.Tyr1166Ser
XM_005266105.5:c.3509A>C	XP_005266162.1:p.Tyr1170Ser
XM_011519021.3:c.3527A>C	XP_011517323.1:p.Tyr1176Ser
XM_011519022.3:c.3524A>C	XP_011517324.1:p.Tyr1175Ser
XM_011519023.3:c.3506A>C	XP_011517325.1:p.Tyr1169Ser
XM_011519029.3:c.1949A>C	XP_011517331.1:p.Tyr650Ser
XM_011519030.3:c.1301A>C	XP_011517332.1:p.Tyr434Ser
XM_017015134.1:c.3503A>C	XP_016870623.1:p.Tyr1168Ser
XM_017015136.2:c.3419A>C	XP_016870625.1:p.Tyr1140Ser
XM_017015137.1:c.3404A>C	XP_016870626.1:p.Tyr1135Ser
XM_017015138.1:c.3404A>C	XP_016870627.1:p.Tyr1135Ser
XM_024447674.1:c.3347A>C	XP_024303442.1:p.Tyr1116Ser
XM_024447675.1:c.3281A>C	XP_024303443.1:p.Tyr1094Ser
XM_024447676.1:c.2642A>C	XP_024303444.1:p.Tyr881Ser
XM_024447677.1:c.2642A>C	XP_024303445.1:p.Tyr881Ser
XM_024447680.1:c.3260A>C	XP_024303448.1:p.Tyr1087Ser
NM_024757.5:c.3518A>C MANE Select	NP_079033.4:p.Tyr1173Ser
NM_001354263.2:c.3497A>C	NP_001341192.1:p.Tyr1166Ser