Canonical Allele Identifier: CA375793356

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813053-G-C
• MyVariant Identifiers: chr9:g.140707505G>C (hg19) ; chr9:g.137813053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813053G>C , CM000671.2:g.137813053G>C	GRCh38
NC_000009.11:g.140707505G>C , CM000671.1:g.140707505G>C	GRCh37
NC_000009.10:g.139827326G>C	NCBI36
NG_011776.1:g.199062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2915G>C MANE Select	ENSP00000417980.1:p.Gly972Ala
ENST00000636027.1:c.2801G>C	ENSP00000489961.1:p.Gly934Ala
ENST00000637161.1:c.2822G>C	ENSP00000490328.1:p.Gly941Ala
ENST00000637261.1:c.2955G>C	ENSP00000490815.1:n.2955G>C
ENST00000637891.1:c.809G>C	ENSP00000490907.1:p.Gly270Ala
ENST00000460843.5:c.2915G>C	ENSP00000417980.1:p.Gly972Ala
ENST00000462942.3:c.1772G>C	ENSP00000436107.1:p.Gly591Ala
ENST00000486164.5:c.602G>C
ENST00000488242.2:n.441G>C
NM_024757.4:c.2915G>C	NP_079033.4:p.Gly972Ala
XM_005266105.3:c.2906G>C	XP_005266162.1:p.Gly969Ala
XM_005266110.1:c.2822G>C	XP_005266167.1:p.Gly941Ala
XM_006717288.2:c.2897G>C	XP_006717351.1:p.Gly966Ala
XM_011519021.1:c.2924G>C	XP_011517323.1:p.Gly975Ala
XM_011519022.1:c.2921G>C	XP_011517324.1:p.Gly974Ala
XM_011519023.1:c.2903G>C	XP_011517325.1:p.Gly968Ala
XM_011519024.1:c.2846G>C	XP_011517326.1:p.Gly949Ala
XM_011519025.1:c.2822G>C	XP_011517327.1:p.Gly941Ala
XM_011519026.1:c.2780G>C	XP_011517328.1:p.Gly927Ala
XM_011519029.1:c.1346G>C	XP_011517331.1:p.Gly449Ala
XM_011519030.1:c.698G>C	XP_011517332.1:p.Gly233Ala
XM_011519031.1:c.485G>C	XP_011517333.1:p.Gly162Ala
XM_011519032.1:c.485G>C	XP_011517334.1:p.Gly162Ala
XM_011519033.1:c.2759G>C	XP_011517335.1:p.Gly920Ala
NM_001354263.1:c.2894G>C	NP_001341192.1:p.Gly965Ala
XM_005266105.5:c.2906G>C	XP_005266162.1:p.Gly969Ala
XM_011519021.3:c.2924G>C	XP_011517323.1:p.Gly975Ala
XM_011519022.3:c.2921G>C	XP_011517324.1:p.Gly974Ala
XM_011519023.3:c.2903G>C	XP_011517325.1:p.Gly968Ala
XM_011519029.3:c.1346G>C	XP_011517331.1:p.Gly449Ala
XM_011519030.3:c.698G>C	XP_011517332.1:p.Gly233Ala
XM_017015134.1:c.2900G>C	XP_016870623.1:p.Gly967Ala
XM_017015136.2:c.2816G>C	XP_016870625.1:p.Gly939Ala
XM_017015137.1:c.2801G>C	XP_016870626.1:p.Gly934Ala
XM_017015138.1:c.2801G>C	XP_016870627.1:p.Gly934Ala
XM_024447674.1:c.2744G>C	XP_024303442.1:p.Gly915Ala
XM_024447675.1:c.2678G>C	XP_024303443.1:p.Gly893Ala
XM_024447676.1:c.2039G>C	XP_024303444.1:p.Gly680Ala
XM_024447677.1:c.2039G>C	XP_024303445.1:p.Gly680Ala
XM_024447680.1:c.2657G>C	XP_024303448.1:p.Gly886Ala
NM_024757.5:c.2915G>C MANE Select	NP_079033.4:p.Gly972Ala
NM_001354263.2:c.2894G>C	NP_001341192.1:p.Gly965Ala