Canonical Allele Identifier: CA375776565
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137776753G>A , CM000671.2:g.137776753G>A GRCh38
NC_000009.11:g.140671205G>A , CM000671.1:g.140671205G>A GRCh37
NC_000009.10:g.139791026G>A NCBI36
NG_011776.1:g.162762G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.1927G>A MANE Select ENSP00000417980.1:p.Ala643Thr
ENST00000636027.1:c.1813G>A ENSP00000489961.1:p.Ala605Thr
ENST00000637161.1:c.1834G>A ENSP00000490328.1:p.Ala612Thr
ENST00000637261.1:c.1967G>A ENSP00000490815.1:n.1967G>A
ENST00000638071.1:c.1554G>A
ENST00000640639.1:c.1096G>A ENSP00000491823.1:p.Ala366Thr
ENST00000371394.6:c.*1662G>A ENSP00000485945.1:n.*1662G>A
ENST00000460843.5:c.1927G>A ENSP00000417980.1:p.Ala643Thr
ENST00000462484.5:c.1927G>A ENSP00000417328.1:p.Ala643Thr
ENST00000462942.3:c.784G>A ENSP00000436107.1:p.Ala262Thr
ENST00000465566.2:c.475G>A ENSP00000486261.1:p.Ala159Thr
ENST00000626603.1:n.1696C>T
NM_001145527.1:c.1927G>A NP_001138999.1:p.Ala643Thr
NM_024757.4:c.1927G>A NP_079033.4:p.Ala643Thr
XM_005266105.3:c.1918G>A XP_005266162.1:p.Ala640Thr
XM_005266110.1:c.1834G>A XP_005266167.1:p.Ala612Thr
XM_006717288.2:c.1909G>A XP_006717351.1:p.Ala637Thr
XM_011519021.1:c.1936G>A XP_011517323.1:p.Ala646Thr
XM_011519022.1:c.1933G>A XP_011517324.1:p.Ala645Thr
XM_011519023.1:c.1915G>A XP_011517325.1:p.Ala639Thr
XM_011519024.1:c.1858G>A XP_011517326.1:p.Ala620Thr
XM_011519025.1:c.1834G>A XP_011517327.1:p.Ala612Thr
XM_011519026.1:c.1792G>A XP_011517328.1:p.Ala598Thr
XM_011519027.1:c.1936G>A XP_011517329.1:p.Ala646Thr
XM_011519028.1:c.1936G>A XP_011517330.1:p.Ala646Thr
XM_011519029.1:c.358G>A XP_011517331.1:p.Ala120Thr
XM_011519033.1:c.1771G>A XP_011517335.1:p.Ala591Thr
NM_001354259.1:c.1834G>A NP_001341188.1:p.Ala612Thr
NM_001354263.1:c.1906G>A NP_001341192.1:p.Ala636Thr
XM_005266105.5:c.1918G>A XP_005266162.1:p.Ala640Thr
XM_011519021.3:c.1936G>A XP_011517323.1:p.Ala646Thr
XM_011519022.3:c.1933G>A XP_011517324.1:p.Ala645Thr
XM_011519023.3:c.1915G>A XP_011517325.1:p.Ala639Thr
XM_011519029.3:c.358G>A XP_011517331.1:p.Ala120Thr
XM_017015134.1:c.1912G>A XP_016870623.1:p.Ala638Thr
XM_017015136.2:c.1828G>A XP_016870625.1:p.Ala610Thr
XM_017015137.1:c.1813G>A XP_016870626.1:p.Ala605Thr
XM_017015138.1:c.1813G>A XP_016870627.1:p.Ala605Thr
XM_024447674.1:c.1756G>A XP_024303442.1:p.Ala586Thr
XM_024447675.1:c.1690G>A XP_024303443.1:p.Ala564Thr
XM_024447676.1:c.1051G>A XP_024303444.1:p.Ala351Thr
XM_024447677.1:c.1051G>A XP_024303445.1:p.Ala351Thr
XM_024447678.1:c.1834G>A XP_024303446.1:p.Ala612Thr
XM_024447679.1:c.1834G>A XP_024303447.1:p.Ala612Thr
XM_024447680.1:c.1669G>A XP_024303448.1:p.Ala557Thr
NM_024757.5:c.1927G>A MANE Select NP_079033.4:p.Ala643Thr
NM_001145527.2:c.1927G>A NP_001138999.1:p.Ala643Thr
NM_001354259.2:c.1834G>A NP_001341188.1:p.Ala612Thr
NM_001354263.2:c.1906G>A NP_001341192.1:p.Ala636Thr