Canonical Allele Identifier: CA375765865
Gene: EHMT1 HGNC NCBI

Linked Data

dbSNP Id: rs748488359

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137757921A>G , CM000671.2:g.137757921A>G GRCh38
NC_000009.11:g.140652373A>G , CM000671.1:g.140652373A>G GRCh37
NC_000009.10:g.139772194A>G NCBI36
NG_011776.1:g.143930A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.1411A>G MANE Select ENSP00000417980.1:p.Thr471Ala
ENST00000629335.2:c.1411A>G ENSP00000490056.1:p.Thr471Ala
ENST00000636027.1:c.1297A>G ENSP00000489961.1:p.Thr433Ala
ENST00000637161.1:c.1318A>G ENSP00000490328.1:p.Thr440Ala
ENST00000637261.1:c.1451A>G ENSP00000490815.1:n.1451A>G
ENST00000637977.1:c.1356A>G
ENST00000638071.1:c.1038A>G
ENST00000640639.1:c.580A>G ENSP00000491823.1:p.Thr194Ala
ENST00000371394.6:c.*1146A>G ENSP00000485945.1:n.*1146A>G
ENST00000460843.5:c.1411A>G ENSP00000417980.1:p.Thr471Ala
ENST00000462484.5:c.1411A>G ENSP00000417328.1:p.Thr471Ala
ENST00000462942.3:c.268A>G ENSP00000436107.1:p.Thr90Ala
ENST00000465566.2:c.103A>G ENSP00000486261.1:p.Thr35Ala
ENST00000629808.2:c.504A>G
NM_001145527.1:c.1411A>G NP_001138999.1:p.Thr471Ala
NM_024757.4:c.1411A>G NP_079033.4:p.Thr471Ala
XM_005266105.3:c.1402A>G XP_005266162.1:p.Thr468Ala
XM_005266110.1:c.1318A>G XP_005266167.1:p.Thr440Ala
XM_006717288.2:c.1393A>G XP_006717351.1:p.Thr465Ala
XM_011519021.1:c.1420A>G XP_011517323.1:p.Thr474Ala
XM_011519022.1:c.1417A>G XP_011517324.1:p.Thr473Ala
XM_011519023.1:c.1399A>G XP_011517325.1:p.Thr467Ala
XM_011519024.1:c.1342A>G XP_011517326.1:p.Thr448Ala
XM_011519025.1:c.1318A>G XP_011517327.1:p.Thr440Ala
XM_011519026.1:c.1420A>G XP_011517328.1:p.Thr474Ala
XM_011519027.1:c.1420A>G XP_011517329.1:p.Thr474Ala
XM_011519028.1:c.1420A>G XP_011517330.1:p.Thr474Ala
XM_011519033.1:c.1399A>G XP_011517335.1:p.Thr467Ala
NM_001354259.1:c.1318A>G NP_001341188.1:p.Thr440Ala
NM_001354263.1:c.1390A>G NP_001341192.1:p.Thr464Ala
NM_001354611.1:c.1411A>G NP_001341540.1:p.Thr471Ala
NM_001354612.1:c.1318A>G NP_001341541.1:p.Thr440Ala
XM_005266105.5:c.1402A>G XP_005266162.1:p.Thr468Ala
XM_011519021.3:c.1420A>G XP_011517323.1:p.Thr474Ala
XM_011519022.3:c.1417A>G XP_011517324.1:p.Thr473Ala
XM_011519023.3:c.1399A>G XP_011517325.1:p.Thr467Ala
XM_017015134.1:c.1396A>G XP_016870623.1:p.Thr466Ala
XM_017015136.2:c.1312A>G XP_016870625.1:p.Thr438Ala
XM_017015137.1:c.1297A>G XP_016870626.1:p.Thr433Ala
XM_017015138.1:c.1297A>G XP_016870627.1:p.Thr433Ala
XM_024447674.1:c.1240A>G XP_024303442.1:p.Thr414Ala
XM_024447675.1:c.1318A>G XP_024303443.1:p.Thr440Ala
XM_024447676.1:c.535A>G XP_024303444.1:p.Thr179Ala
XM_024447677.1:c.535A>G XP_024303445.1:p.Thr179Ala
XM_024447678.1:c.1318A>G XP_024303446.1:p.Thr440Ala
XM_024447679.1:c.1318A>G XP_024303447.1:p.Thr440Ala
XM_024447680.1:c.1297A>G XP_024303448.1:p.Thr433Ala
NM_024757.5:c.1411A>G MANE Select NP_079033.4:p.Thr471Ala
NM_001145527.2:c.1411A>G NP_001138999.1:p.Thr471Ala
NM_001354259.2:c.1318A>G NP_001341188.1:p.Thr440Ala
NM_001354263.2:c.1390A>G NP_001341192.1:p.Thr464Ala
NM_001354611.2:c.1411A>G NP_001341540.1:p.Thr471Ala
NM_001354612.2:c.1318A>G NP_001341541.1:p.Thr440Ala