Canonical Allele Identifier: CA375793425

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813076-A-C
• MyVariant Identifiers: chr9:g.140707528A>C (hg19) ; chr9:g.137813076A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813076A>C , CM000671.2:g.137813076A>C	GRCh38
NC_000009.11:g.140707528A>C , CM000671.1:g.140707528A>C	GRCh37
NC_000009.10:g.139827349A>C	NCBI36
NG_011776.1:g.199085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2938A>C MANE Select	ENSP00000417980.1:p.Ser980Arg
ENST00000636027.1:c.2824A>C	ENSP00000489961.1:p.Ser942Arg
ENST00000637161.1:c.2845A>C	ENSP00000490328.1:p.Ser949Arg
ENST00000637261.1:c.2978A>C	ENSP00000490815.1:n.2978A>C
ENST00000637891.1:c.832A>C	ENSP00000490907.1:p.Ser278Arg
ENST00000460843.5:c.2938A>C	ENSP00000417980.1:p.Ser980Arg
ENST00000462942.3:c.1795A>C	ENSP00000436107.1:p.Ser599Arg
ENST00000486164.5:c.625A>C
ENST00000488242.2:n.464A>C
NM_024757.4:c.2938A>C	NP_079033.4:p.Ser980Arg
XM_005266105.3:c.2929A>C	XP_005266162.1:p.Ser977Arg
XM_005266110.1:c.2845A>C	XP_005266167.1:p.Ser949Arg
XM_006717288.2:c.2920A>C	XP_006717351.1:p.Ser974Arg
XM_011519021.1:c.2947A>C	XP_011517323.1:p.Ser983Arg
XM_011519022.1:c.2944A>C	XP_011517324.1:p.Ser982Arg
XM_011519023.1:c.2926A>C	XP_011517325.1:p.Ser976Arg
XM_011519024.1:c.2869A>C	XP_011517326.1:p.Ser957Arg
XM_011519025.1:c.2845A>C	XP_011517327.1:p.Ser949Arg
XM_011519026.1:c.2803A>C	XP_011517328.1:p.Ser935Arg
XM_011519029.1:c.1369A>C	XP_011517331.1:p.Ser457Arg
XM_011519030.1:c.721A>C	XP_011517332.1:p.Ser241Arg
XM_011519031.1:c.508A>C	XP_011517333.1:p.Ser170Arg
XM_011519032.1:c.508A>C	XP_011517334.1:p.Ser170Arg
XM_011519033.1:c.2782A>C	XP_011517335.1:p.Ser928Arg
NM_001354263.1:c.2917A>C	NP_001341192.1:p.Ser973Arg
XM_005266105.5:c.2929A>C	XP_005266162.1:p.Ser977Arg
XM_011519021.3:c.2947A>C	XP_011517323.1:p.Ser983Arg
XM_011519022.3:c.2944A>C	XP_011517324.1:p.Ser982Arg
XM_011519023.3:c.2926A>C	XP_011517325.1:p.Ser976Arg
XM_011519029.3:c.1369A>C	XP_011517331.1:p.Ser457Arg
XM_011519030.3:c.721A>C	XP_011517332.1:p.Ser241Arg
XM_017015134.1:c.2923A>C	XP_016870623.1:p.Ser975Arg
XM_017015136.2:c.2839A>C	XP_016870625.1:p.Ser947Arg
XM_017015137.1:c.2824A>C	XP_016870626.1:p.Ser942Arg
XM_017015138.1:c.2824A>C	XP_016870627.1:p.Ser942Arg
XM_024447674.1:c.2767A>C	XP_024303442.1:p.Ser923Arg
XM_024447675.1:c.2701A>C	XP_024303443.1:p.Ser901Arg
XM_024447676.1:c.2062A>C	XP_024303444.1:p.Ser688Arg
XM_024447677.1:c.2062A>C	XP_024303445.1:p.Ser688Arg
XM_024447680.1:c.2680A>C	XP_024303448.1:p.Ser894Arg
NM_024757.5:c.2938A>C MANE Select	NP_079033.4:p.Ser980Arg
NM_001354263.2:c.2917A>C	NP_001341192.1:p.Ser973Arg