Canonical Allele Identifier: CA467878052
Gene: EHMT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.140712566T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137818114T>A , CM000671.2:g.137818114T>A GRCh38
NC_000009.11:g.140712566T>A , CM000671.1:g.140712566T>A GRCh37
NC_000009.10:g.139832387T>A NCBI36
NG_011776.1:g.204123T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.3516T>A MANE Select ENSP00000417980.1:p.Ser1172=
ENST00000636472.1:n.78T>A
ENST00000636526.1:n.2T>A
ENST00000637161.1:c.3423T>A ENSP00000490328.1:p.Ser1141=
ENST00000637261.1:c.4090T>A ENSP00000490815.1:n.4090T>A
ENST00000637748.1:n.497T>A
ENST00000637891.1:c.1590T>A ENSP00000490907.1:n.1590T>A
ENST00000460843.5:c.3516T>A ENSP00000417980.1:p.Ser1172=
ENST00000462942.3:c.2373T>A ENSP00000436107.1:p.Ser791=
ENST00000475564.5:n.1240T>A
ENST00000494249.5:n.869T>A
NM_024757.4:c.3516T>A NP_079033.4:p.Ser1172=
XM_005266105.3:c.3507T>A XP_005266162.1:p.Ser1169=
XM_005266110.1:c.3423T>A XP_005266167.1:p.Ser1141=
XM_006717288.2:c.3498T>A XP_006717351.1:p.Ser1166=
XM_011519021.1:c.3525T>A XP_011517323.1:p.Ser1175=
XM_011519022.1:c.3522T>A XP_011517324.1:p.Ser1174=
XM_011519023.1:c.3504T>A XP_011517325.1:p.Ser1168=
XM_011519024.1:c.3447T>A XP_011517326.1:p.Ser1149=
XM_011519025.1:c.3423T>A XP_011517327.1:p.Ser1141=
XM_011519026.1:c.3381T>A XP_011517328.1:p.Ser1127=
XM_011519029.1:c.1947T>A XP_011517331.1:p.Ser649=
XM_011519030.1:c.1299T>A XP_011517332.1:p.Ser433=
XM_011519031.1:c.1086T>A XP_011517333.1:p.Ser362=
XM_011519032.1:c.1086T>A XP_011517334.1:p.Ser362=
XM_011519033.1:c.3360T>A XP_011517335.1:p.Ser1120=
XR_930459.1:n.5297-3552A>T
NM_001354263.1:c.3495T>A NP_001341192.1:p.Ser1165=
XM_005266105.5:c.3507T>A XP_005266162.1:p.Ser1169=
XM_011519021.3:c.3525T>A XP_011517323.1:p.Ser1175=
XM_011519022.3:c.3522T>A XP_011517324.1:p.Ser1174=
XM_011519023.3:c.3504T>A XP_011517325.1:p.Ser1168=
XM_011519029.3:c.1947T>A XP_011517331.1:p.Ser649=
XM_011519030.3:c.1299T>A XP_011517332.1:p.Ser433=
XM_017015134.1:c.3501T>A XP_016870623.1:p.Ser1167=
XM_017015136.2:c.3417T>A XP_016870625.1:p.Ser1139=
XM_017015137.1:c.3402T>A XP_016870626.1:p.Ser1134=
XM_017015138.1:c.3402T>A XP_016870627.1:p.Ser1134=
XM_024447674.1:c.3345T>A XP_024303442.1:p.Ser1115=
XM_024447675.1:c.3279T>A XP_024303443.1:p.Ser1093=
XM_024447676.1:c.2640T>A XP_024303444.1:p.Ser880=
XM_024447677.1:c.2640T>A XP_024303445.1:p.Ser880=
XM_024447680.1:c.3258T>A XP_024303448.1:p.Ser1086=
NM_024757.5:c.3516T>A MANE Select NP_079033.4:p.Ser1172=
NM_001354263.2:c.3495T>A NP_001341192.1:p.Ser1165=