Canonical Allele Identifier: CA375773157

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137817526G>C , CM000671.2:g.137817526G>C	GRCh38
NC_000009.11:g.140711978G>C , CM000671.1:g.140711978G>C	GRCh37
NC_000009.10:g.139831799G>C	NCBI36
NG_011776.1:g.203535G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3461+1G>C MANE Select	NP_079033.4:n.3461+1G>C
ENST00000460843.6:c.3461+1G>C MANE Select	ENSP00000417980.1:n.3461+1G>C
NM_001354263.1:c.3440+1G>C	NP_001341192.1:n.3440+1G>C
NM_001354263.2:c.3440+1G>C	NP_001341192.1:n.3440+1G>C
NM_024757.4:c.3461+1G>C	NP_079033.4:n.3461+1G>C
ENST00000460843.5:c.3461+1G>C	ENSP00000417980.1:n.3461+1G>C
ENST00000462942.3:c.2318+1G>C	ENSP00000436107.1:n.2318+1G>C
ENST00000475564.5:n.1185+1G>C
ENST00000494249.5:n.814+1G>C
ENST00000637161.1:c.3368+1G>C	ENSP00000490328.1:n.3368+1G>C
ENST00000637261.1:c.3502G>C	ENSP00000490815.1:n.3502G>C
ENST00000637748.1:n.442+1G>C
ENST00000637891.1:c.1535+1G>C	ENSP00000490907.1:n.1535+1G>C
XM_005266105.3:c.3452+1G>C	XP_005266162.1:n.3452+1G>C
XM_005266105.5:c.3452+1G>C	XP_005266162.1:n.3452+1G>C
XM_005266110.1:c.3368+1G>C	XP_005266167.1:n.3368+1G>C
XM_006717288.2:c.3443+1G>C	XP_006717351.1:n.3443+1G>C
XM_011519021.1:c.3470+1G>C	XP_011517323.1:n.3470+1G>C
XM_011519021.3:c.3470+1G>C	XP_011517323.1:n.3470+1G>C
XM_011519022.1:c.3467+1G>C	XP_011517324.1:n.3467+1G>C
XM_011519022.3:c.3467+1G>C	XP_011517324.1:n.3467+1G>C
XM_011519023.1:c.3449+1G>C	XP_011517325.1:n.3449+1G>C
XM_011519023.3:c.3449+1G>C	XP_011517325.1:n.3449+1G>C
XM_011519024.1:c.3392+1G>C	XP_011517326.1:n.3392+1G>C
XM_011519025.1:c.3368+1G>C	XP_011517327.1:n.3368+1G>C
XM_011519026.1:c.3326+1G>C	XP_011517328.1:n.3326+1G>C
XM_011519029.1:c.1892+1G>C	XP_011517331.1:n.1892+1G>C
XM_011519029.3:c.1892+1G>C	XP_011517331.1:n.1892+1G>C
XM_011519030.1:c.1244+1G>C	XP_011517332.1:n.1244+1G>C
XM_011519030.3:c.1244+1G>C	XP_011517332.1:n.1244+1G>C
XM_011519031.1:c.1031+1G>C	XP_011517333.1:n.1031+1G>C
XM_011519032.1:c.1031+1G>C	XP_011517334.1:n.1031+1G>C
XM_011519033.1:c.3305+1G>C	XP_011517335.1:n.3305+1G>C
XM_017015134.1:c.3446+1G>C	XP_016870623.1:n.3446+1G>C
XM_017015136.2:c.3362+1G>C	XP_016870625.1:n.3362+1G>C
XM_017015137.1:c.3347+1G>C	XP_016870626.1:n.3347+1G>C
XM_017015138.1:c.3347+1G>C	XP_016870627.1:n.3347+1G>C
XM_024447674.1:c.3290+1G>C	XP_024303442.1:n.3290+1G>C
XM_024447675.1:c.3224+1G>C	XP_024303443.1:n.3224+1G>C
XM_024447676.1:c.2585+1G>C	XP_024303444.1:n.2585+1G>C
XM_024447677.1:c.2585+1G>C	XP_024303445.1:n.2585+1G>C
XM_024447680.1:c.3203+1G>C	XP_024303448.1:n.3203+1G>C
XR_930459.1:n.5297-2964C>G