Canonical Allele Identifier: CA5374837

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137778050G>A , CM000671.2:g.137778050G>A	GRCh38
NC_000009.11:g.140672502G>A , CM000671.1:g.140672502G>A	GRCh37
NC_000009.10:g.139792323G>A	NCBI36
NG_011776.1:g.164059G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.2187G>A MANE Select	NP_079033.4:p.Ser729=
ENST00000460843.6:c.2187G>A MANE Select	ENSP00000417980.1:p.Ser729=
NM_001145527.1:c.2187G>A	NP_001138999.1:p.Ser729=
NM_001145527.2:c.2187G>A	NP_001138999.1:p.Ser729=
NM_001354259.1:c.2094G>A	NP_001341188.1:p.Ser698=
NM_001354259.2:c.2094G>A	NP_001341188.1:p.Ser698=
NM_001354263.1:c.2166G>A	NP_001341192.1:p.Ser722=
NM_001354263.2:c.2166G>A	NP_001341192.1:p.Ser722=
NM_024757.4:c.2187G>A	NP_079033.4:p.Ser729=
ENST00000371394.6:c.*1922G>A	ENSP00000485945.1:n.*1922G>A
ENST00000460843.5:c.2187G>A	ENSP00000417980.1:p.Ser729=
ENST00000462484.5:c.2187G>A	ENSP00000417328.1:p.Ser729=
ENST00000462942.3:c.1044G>A	ENSP00000436107.1:p.Ser348=
ENST00000626603.1:n.1061-662C>T
ENST00000636027.1:c.2073G>A	ENSP00000489961.1:p.Ser691=
ENST00000637161.1:c.2094G>A	ENSP00000490328.1:p.Ser698=
ENST00000637261.1:c.2227G>A	ENSP00000490815.1:n.2227G>A
ENST00000637891.1:c.81G>A	ENSP00000490907.1:p.Ser27=
XM_005266105.3:c.2178G>A	XP_005266162.1:p.Ser726=
XM_005266105.5:c.2178G>A	XP_005266162.1:p.Ser726=
XM_005266110.1:c.2094G>A	XP_005266167.1:p.Ser698=
XM_006717288.2:c.2169G>A	XP_006717351.1:p.Ser723=
XM_011519021.1:c.2196G>A	XP_011517323.1:p.Ser732=
XM_011519021.3:c.2196G>A	XP_011517323.1:p.Ser732=
XM_011519022.1:c.2193G>A	XP_011517324.1:p.Ser731=
XM_011519022.3:c.2193G>A	XP_011517324.1:p.Ser731=
XM_011519023.1:c.2175G>A	XP_011517325.1:p.Ser725=
XM_011519023.3:c.2175G>A	XP_011517325.1:p.Ser725=
XM_011519024.1:c.2118G>A	XP_011517326.1:p.Ser706=
XM_011519025.1:c.2094G>A	XP_011517327.1:p.Ser698=
XM_011519026.1:c.2052G>A	XP_011517328.1:p.Ser684=
XM_011519027.1:c.2196G>A	XP_011517329.1:p.Ser732=
XM_011519028.1:c.2196G>A	XP_011517330.1:p.Ser732=
XM_011519029.1:c.618G>A	XP_011517331.1:p.Ser206=
XM_011519029.3:c.618G>A	XP_011517331.1:p.Ser206=
XM_011519033.1:c.2031G>A	XP_011517335.1:p.Ser677=
XM_017015134.1:c.2172G>A	XP_016870623.1:p.Ser724=
XM_017015136.2:c.2088G>A	XP_016870625.1:p.Ser696=
XM_017015137.1:c.2073G>A	XP_016870626.1:p.Ser691=
XM_017015138.1:c.2073G>A	XP_016870627.1:p.Ser691=
XM_024447674.1:c.2016G>A	XP_024303442.1:p.Ser672=
XM_024447675.1:c.1950G>A	XP_024303443.1:p.Ser650=
XM_024447676.1:c.1311G>A	XP_024303444.1:p.Ser437=
XM_024447677.1:c.1311G>A	XP_024303445.1:p.Ser437=
XM_024447678.1:c.2094G>A	XP_024303446.1:p.Ser698=
XM_024447679.1:c.2094G>A	XP_024303447.1:p.Ser698=
XM_024447680.1:c.1929G>A	XP_024303448.1:p.Ser643=