Canonical Allele Identifier: CA375793665

Gene: EHMT1

Linked Data

• dbSNP Id: rs747347498
• MyVariant Identifiers: chr9:g.140707586C>A (hg19) ; chr9:g.137813134C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813134C>A , CM000671.2:g.137813134C>A	GRCh38
NC_000009.11:g.140707586C>A , CM000671.1:g.140707586C>A	GRCh37
NC_000009.10:g.139827407C>A	NCBI36
NG_011776.1:g.199143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2996C>A MANE Select	ENSP00000417980.1:p.Ala999Asp
ENST00000636027.1:c.2882C>A	ENSP00000489961.1:p.Ala961Asp
ENST00000637161.1:c.2903C>A	ENSP00000490328.1:p.Ala968Asp
ENST00000637261.1:c.3036C>A	ENSP00000490815.1:n.3036C>A
ENST00000637891.1:c.890C>A	ENSP00000490907.1:p.Ala297Asp
ENST00000460843.5:c.2996C>A	ENSP00000417980.1:p.Ala999Asp
ENST00000462942.3:c.1853C>A	ENSP00000436107.1:p.Ala618Asp
ENST00000486164.5:c.683C>A
ENST00000488242.2:n.522C>A
NM_024757.4:c.2996C>A	NP_079033.4:p.Ala999Asp
XM_005266105.3:c.2987C>A	XP_005266162.1:p.Ala996Asp
XM_005266110.1:c.2903C>A	XP_005266167.1:p.Ala968Asp
XM_006717288.2:c.2978C>A	XP_006717351.1:p.Ala993Asp
XM_011519021.1:c.3005C>A	XP_011517323.1:p.Ala1002Asp
XM_011519022.1:c.3002C>A	XP_011517324.1:p.Ala1001Asp
XM_011519023.1:c.2984C>A	XP_011517325.1:p.Ala995Asp
XM_011519024.1:c.2927C>A	XP_011517326.1:p.Ala976Asp
XM_011519025.1:c.2903C>A	XP_011517327.1:p.Ala968Asp
XM_011519026.1:c.2861C>A	XP_011517328.1:p.Ala954Asp
XM_011519029.1:c.1427C>A	XP_011517331.1:p.Ala476Asp
XM_011519030.1:c.779C>A	XP_011517332.1:p.Ala260Asp
XM_011519031.1:c.566C>A	XP_011517333.1:p.Ala189Asp
XM_011519032.1:c.566C>A	XP_011517334.1:p.Ala189Asp
XM_011519033.1:c.2840C>A	XP_011517335.1:p.Ala947Asp
NM_001354263.1:c.2975C>A	NP_001341192.1:p.Ala992Asp
XM_005266105.5:c.2987C>A	XP_005266162.1:p.Ala996Asp
XM_011519021.3:c.3005C>A	XP_011517323.1:p.Ala1002Asp
XM_011519022.3:c.3002C>A	XP_011517324.1:p.Ala1001Asp
XM_011519023.3:c.2984C>A	XP_011517325.1:p.Ala995Asp
XM_011519029.3:c.1427C>A	XP_011517331.1:p.Ala476Asp
XM_011519030.3:c.779C>A	XP_011517332.1:p.Ala260Asp
XM_017015134.1:c.2981C>A	XP_016870623.1:p.Ala994Asp
XM_017015136.2:c.2897C>A	XP_016870625.1:p.Ala966Asp
XM_017015137.1:c.2882C>A	XP_016870626.1:p.Ala961Asp
XM_017015138.1:c.2882C>A	XP_016870627.1:p.Ala961Asp
XM_024447674.1:c.2825C>A	XP_024303442.1:p.Ala942Asp
XM_024447675.1:c.2759C>A	XP_024303443.1:p.Ala920Asp
XM_024447676.1:c.2120C>A	XP_024303444.1:p.Ala707Asp
XM_024447677.1:c.2120C>A	XP_024303445.1:p.Ala707Asp
XM_024447680.1:c.2738C>A	XP_024303448.1:p.Ala913Asp
NM_024757.5:c.2996C>A MANE Select	NP_079033.4:p.Ala999Asp
NM_001354263.2:c.2975C>A	NP_001341192.1:p.Ala992Asp