Canonical Allele Identifier: CA375777079
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137776844G>T , CM000671.2:g.137776844G>T GRCh38
NC_000009.11:g.140671296G>T , CM000671.1:g.140671296G>T GRCh37
NC_000009.10:g.139791117G>T NCBI36
NG_011776.1:g.162853G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.2018G>T MANE Select ENSP00000417980.1:p.Ser673Ile
ENST00000636027.1:c.1904G>T ENSP00000489961.1:p.Ser635Ile
ENST00000637161.1:c.1925G>T ENSP00000490328.1:p.Ser642Ile
ENST00000637261.1:c.2058G>T ENSP00000490815.1:n.2058G>T
ENST00000638071.1:c.1645G>T
ENST00000371394.6:c.*1753G>T ENSP00000485945.1:n.*1753G>T
ENST00000460843.5:c.2018G>T ENSP00000417980.1:p.Ser673Ile
ENST00000462484.5:c.2018G>T ENSP00000417328.1:p.Ser673Ile
ENST00000462942.3:c.875G>T ENSP00000436107.1:p.Ser292Ile
ENST00000626603.1:n.1605C>A
NM_001145527.1:c.2018G>T NP_001138999.1:p.Ser673Ile
NM_024757.4:c.2018G>T NP_079033.4:p.Ser673Ile
XM_005266105.3:c.2009G>T XP_005266162.1:p.Ser670Ile
XM_005266110.1:c.1925G>T XP_005266167.1:p.Ser642Ile
XM_006717288.2:c.2000G>T XP_006717351.1:p.Ser667Ile
XM_011519021.1:c.2027G>T XP_011517323.1:p.Ser676Ile
XM_011519022.1:c.2024G>T XP_011517324.1:p.Ser675Ile
XM_011519023.1:c.2006G>T XP_011517325.1:p.Ser669Ile
XM_011519024.1:c.1949G>T XP_011517326.1:p.Ser650Ile
XM_011519025.1:c.1925G>T XP_011517327.1:p.Ser642Ile
XM_011519026.1:c.1883G>T XP_011517328.1:p.Ser628Ile
XM_011519027.1:c.2027G>T XP_011517329.1:p.Ser676Ile
XM_011519028.1:c.2027G>T XP_011517330.1:p.Ser676Ile
XM_011519029.1:c.449G>T XP_011517331.1:p.Ser150Ile
XM_011519033.1:c.1862G>T XP_011517335.1:p.Ser621Ile
NM_001354259.1:c.1925G>T NP_001341188.1:p.Ser642Ile
NM_001354263.1:c.1997G>T NP_001341192.1:p.Ser666Ile
XM_005266105.5:c.2009G>T XP_005266162.1:p.Ser670Ile
XM_011519021.3:c.2027G>T XP_011517323.1:p.Ser676Ile
XM_011519022.3:c.2024G>T XP_011517324.1:p.Ser675Ile
XM_011519023.3:c.2006G>T XP_011517325.1:p.Ser669Ile
XM_011519029.3:c.449G>T XP_011517331.1:p.Ser150Ile
XM_017015134.1:c.2003G>T XP_016870623.1:p.Ser668Ile
XM_017015136.2:c.1919G>T XP_016870625.1:p.Ser640Ile
XM_017015137.1:c.1904G>T XP_016870626.1:p.Ser635Ile
XM_017015138.1:c.1904G>T XP_016870627.1:p.Ser635Ile
XM_024447674.1:c.1847G>T XP_024303442.1:p.Ser616Ile
XM_024447675.1:c.1781G>T XP_024303443.1:p.Ser594Ile
XM_024447676.1:c.1142G>T XP_024303444.1:p.Ser381Ile
XM_024447677.1:c.1142G>T XP_024303445.1:p.Ser381Ile
XM_024447678.1:c.1925G>T XP_024303446.1:p.Ser642Ile
XM_024447679.1:c.1925G>T XP_024303447.1:p.Ser642Ile
XM_024447680.1:c.1760G>T XP_024303448.1:p.Ser587Ile
NM_024757.5:c.2018G>T MANE Select NP_079033.4:p.Ser673Ile
NM_001145527.2:c.2018G>T NP_001138999.1:p.Ser673Ile
NM_001354259.2:c.1925G>T NP_001341188.1:p.Ser642Ile
NM_001354263.2:c.1997G>T NP_001341192.1:p.Ser666Ile