Canonical Allele Identifier: CA375793603

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813116-A-C
• MyVariant Identifiers: chr9:g.140707568A>C (hg19) ; chr9:g.137813116A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813116A>C , CM000671.2:g.137813116A>C	GRCh38
NC_000009.11:g.140707568A>C , CM000671.1:g.140707568A>C	GRCh37
NC_000009.10:g.139827389A>C	NCBI36
NG_011776.1:g.199125A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2978A>C MANE Select	ENSP00000417980.1:p.Lys993Thr
ENST00000636027.1:c.2864A>C	ENSP00000489961.1:p.Lys955Thr
ENST00000637161.1:c.2885A>C	ENSP00000490328.1:p.Lys962Thr
ENST00000637261.1:c.3018A>C	ENSP00000490815.1:n.3018A>C
ENST00000637891.1:c.872A>C	ENSP00000490907.1:p.Lys291Thr
ENST00000460843.5:c.2978A>C	ENSP00000417980.1:p.Lys993Thr
ENST00000462942.3:c.1835A>C	ENSP00000436107.1:p.Lys612Thr
ENST00000486164.5:c.665A>C
ENST00000488242.2:n.504A>C
NM_024757.4:c.2978A>C	NP_079033.4:p.Lys993Thr
XM_005266105.3:c.2969A>C	XP_005266162.1:p.Lys990Thr
XM_005266110.1:c.2885A>C	XP_005266167.1:p.Lys962Thr
XM_006717288.2:c.2960A>C	XP_006717351.1:p.Lys987Thr
XM_011519021.1:c.2987A>C	XP_011517323.1:p.Lys996Thr
XM_011519022.1:c.2984A>C	XP_011517324.1:p.Lys995Thr
XM_011519023.1:c.2966A>C	XP_011517325.1:p.Lys989Thr
XM_011519024.1:c.2909A>C	XP_011517326.1:p.Lys970Thr
XM_011519025.1:c.2885A>C	XP_011517327.1:p.Lys962Thr
XM_011519026.1:c.2843A>C	XP_011517328.1:p.Lys948Thr
XM_011519029.1:c.1409A>C	XP_011517331.1:p.Lys470Thr
XM_011519030.1:c.761A>C	XP_011517332.1:p.Lys254Thr
XM_011519031.1:c.548A>C	XP_011517333.1:p.Lys183Thr
XM_011519032.1:c.548A>C	XP_011517334.1:p.Lys183Thr
XM_011519033.1:c.2822A>C	XP_011517335.1:p.Lys941Thr
NM_001354263.1:c.2957A>C	NP_001341192.1:p.Lys986Thr
XM_005266105.5:c.2969A>C	XP_005266162.1:p.Lys990Thr
XM_011519021.3:c.2987A>C	XP_011517323.1:p.Lys996Thr
XM_011519022.3:c.2984A>C	XP_011517324.1:p.Lys995Thr
XM_011519023.3:c.2966A>C	XP_011517325.1:p.Lys989Thr
XM_011519029.3:c.1409A>C	XP_011517331.1:p.Lys470Thr
XM_011519030.3:c.761A>C	XP_011517332.1:p.Lys254Thr
XM_017015134.1:c.2963A>C	XP_016870623.1:p.Lys988Thr
XM_017015136.2:c.2879A>C	XP_016870625.1:p.Lys960Thr
XM_017015137.1:c.2864A>C	XP_016870626.1:p.Lys955Thr
XM_017015138.1:c.2864A>C	XP_016870627.1:p.Lys955Thr
XM_024447674.1:c.2807A>C	XP_024303442.1:p.Lys936Thr
XM_024447675.1:c.2741A>C	XP_024303443.1:p.Lys914Thr
XM_024447676.1:c.2102A>C	XP_024303444.1:p.Lys701Thr
XM_024447677.1:c.2102A>C	XP_024303445.1:p.Lys701Thr
XM_024447680.1:c.2720A>C	XP_024303448.1:p.Lys907Thr
NM_024757.5:c.2978A>C MANE Select	NP_079033.4:p.Lys993Thr
NM_001354263.2:c.2957A>C	NP_001341192.1:p.Lys986Thr