Canonical Allele Identifier: CA375766090
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137757945T>C , CM000671.2:g.137757945T>C GRCh38
NC_000009.11:g.140652397T>C , CM000671.1:g.140652397T>C GRCh37
NC_000009.10:g.139772218T>C NCBI36
NG_011776.1:g.143954T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.1435T>C MANE Select ENSP00000417980.1:p.Tyr479His
ENST00000629335.2:c.1435T>C ENSP00000490056.1:p.Tyr479His
ENST00000636027.1:c.1321T>C ENSP00000489961.1:p.Tyr441His
ENST00000637161.1:c.1342T>C ENSP00000490328.1:p.Tyr448His
ENST00000637261.1:c.1475T>C ENSP00000490815.1:n.1475T>C
ENST00000637977.1:c.1380T>C
ENST00000638071.1:c.1062T>C
ENST00000640639.1:c.604T>C ENSP00000491823.1:p.Tyr202His
ENST00000371394.6:c.*1170T>C ENSP00000485945.1:n.*1170T>C
ENST00000460843.5:c.1435T>C ENSP00000417980.1:p.Tyr479His
ENST00000462484.5:c.1435T>C ENSP00000417328.1:p.Tyr479His
ENST00000462942.3:c.292T>C ENSP00000436107.1:p.Tyr98His
ENST00000465566.2:c.127T>C ENSP00000486261.1:p.Tyr43His
ENST00000629808.2:c.528T>C
NM_001145527.1:c.1435T>C NP_001138999.1:p.Tyr479His
NM_024757.4:c.1435T>C NP_079033.4:p.Tyr479His
XM_005266105.3:c.1426T>C XP_005266162.1:p.Tyr476His
XM_005266110.1:c.1342T>C XP_005266167.1:p.Tyr448His
XM_006717288.2:c.1417T>C XP_006717351.1:p.Tyr473His
XM_011519021.1:c.1444T>C XP_011517323.1:p.Tyr482His
XM_011519022.1:c.1441T>C XP_011517324.1:p.Tyr481His
XM_011519023.1:c.1423T>C XP_011517325.1:p.Tyr475His
XM_011519024.1:c.1366T>C XP_011517326.1:p.Tyr456His
XM_011519025.1:c.1342T>C XP_011517327.1:p.Tyr448His
XM_011519026.1:c.1444T>C XP_011517328.1:p.Tyr482His
XM_011519027.1:c.1444T>C XP_011517329.1:p.Tyr482His
XM_011519028.1:c.1444T>C XP_011517330.1:p.Tyr482His
XM_011519033.1:c.1423T>C XP_011517335.1:p.Tyr475His
NM_001354259.1:c.1342T>C NP_001341188.1:p.Tyr448His
NM_001354263.1:c.1414T>C NP_001341192.1:p.Tyr472His
NM_001354611.1:c.1435T>C NP_001341540.1:p.Tyr479His
NM_001354612.1:c.1342T>C NP_001341541.1:p.Tyr448His
XM_005266105.5:c.1426T>C XP_005266162.1:p.Tyr476His
XM_011519021.3:c.1444T>C XP_011517323.1:p.Tyr482His
XM_011519022.3:c.1441T>C XP_011517324.1:p.Tyr481His
XM_011519023.3:c.1423T>C XP_011517325.1:p.Tyr475His
XM_017015134.1:c.1420T>C XP_016870623.1:p.Tyr474His
XM_017015136.2:c.1336T>C XP_016870625.1:p.Tyr446His
XM_017015137.1:c.1321T>C XP_016870626.1:p.Tyr441His
XM_017015138.1:c.1321T>C XP_016870627.1:p.Tyr441His
XM_024447674.1:c.1264T>C XP_024303442.1:p.Tyr422His
XM_024447675.1:c.1342T>C XP_024303443.1:p.Tyr448His
XM_024447676.1:c.559T>C XP_024303444.1:p.Tyr187His
XM_024447677.1:c.559T>C XP_024303445.1:p.Tyr187His
XM_024447678.1:c.1342T>C XP_024303446.1:p.Tyr448His
XM_024447679.1:c.1342T>C XP_024303447.1:p.Tyr448His
XM_024447680.1:c.1321T>C XP_024303448.1:p.Tyr441His
NM_024757.5:c.1435T>C MANE Select NP_079033.4:p.Tyr479His
NM_001145527.2:c.1435T>C NP_001138999.1:p.Tyr479His
NM_001354259.2:c.1342T>C NP_001341188.1:p.Tyr448His
NM_001354263.2:c.1414T>C NP_001341192.1:p.Tyr472His
NM_001354611.2:c.1435T>C NP_001341540.1:p.Tyr479His
NM_001354612.2:c.1342T>C NP_001341541.1:p.Tyr448His