Canonical Allele Identifier: CA375793806
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813391T>G , CM000671.2:g.137813391T>G GRCh38
NC_000009.11:g.140707843T>G , CM000671.1:g.140707843T>G GRCh37
NC_000009.10:g.139827664T>G NCBI36
NG_011776.1:g.199400T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.3041T>G MANE Select ENSP00000417980.1:p.Ile1014Ser
ENST00000636027.1:c.2927T>G ENSP00000489961.1:p.Ile976Ser
ENST00000637161.1:c.2948T>G ENSP00000490328.1:p.Ile983Ser
ENST00000637261.1:c.3081T>G ENSP00000490815.1:n.3081T>G
ENST00000637891.1:c.935T>G ENSP00000490907.1:p.Ile312Ser
ENST00000460843.5:c.3041T>G ENSP00000417980.1:p.Ile1014Ser
ENST00000462942.3:c.1898T>G ENSP00000436107.1:p.Ile633Ser
ENST00000486164.5:c.728T>G
ENST00000488242.2:n.567T>G
NM_024757.4:c.3041T>G NP_079033.4:p.Ile1014Ser
XM_005266105.3:c.3032T>G XP_005266162.1:p.Ile1011Ser
XM_005266110.1:c.2948T>G XP_005266167.1:p.Ile983Ser
XM_006717288.2:c.3023T>G XP_006717351.1:p.Ile1008Ser
XM_011519021.1:c.3050T>G XP_011517323.1:p.Ile1017Ser
XM_011519022.1:c.3047T>G XP_011517324.1:p.Ile1016Ser
XM_011519023.1:c.3029T>G XP_011517325.1:p.Ile1010Ser
XM_011519024.1:c.2972T>G XP_011517326.1:p.Ile991Ser
XM_011519025.1:c.2948T>G XP_011517327.1:p.Ile983Ser
XM_011519026.1:c.2906T>G XP_011517328.1:p.Ile969Ser
XM_011519029.1:c.1472T>G XP_011517331.1:p.Ile491Ser
XM_011519030.1:c.824T>G XP_011517332.1:p.Ile275Ser
XM_011519031.1:c.611T>G XP_011517333.1:p.Ile204Ser
XM_011519032.1:c.611T>G XP_011517334.1:p.Ile204Ser
XM_011519033.1:c.2885T>G XP_011517335.1:p.Ile962Ser
NM_001354263.1:c.3020T>G NP_001341192.1:p.Ile1007Ser
XM_005266105.5:c.3032T>G XP_005266162.1:p.Ile1011Ser
XM_011519021.3:c.3050T>G XP_011517323.1:p.Ile1017Ser
XM_011519022.3:c.3047T>G XP_011517324.1:p.Ile1016Ser
XM_011519023.3:c.3029T>G XP_011517325.1:p.Ile1010Ser
XM_011519029.3:c.1472T>G XP_011517331.1:p.Ile491Ser
XM_011519030.3:c.824T>G XP_011517332.1:p.Ile275Ser
XM_017015134.1:c.3026T>G XP_016870623.1:p.Ile1009Ser
XM_017015136.2:c.2942T>G XP_016870625.1:p.Ile981Ser
XM_017015137.1:c.2927T>G XP_016870626.1:p.Ile976Ser
XM_017015138.1:c.2927T>G XP_016870627.1:p.Ile976Ser
XM_024447674.1:c.2870T>G XP_024303442.1:p.Ile957Ser
XM_024447675.1:c.2804T>G XP_024303443.1:p.Ile935Ser
XM_024447676.1:c.2165T>G XP_024303444.1:p.Ile722Ser
XM_024447677.1:c.2165T>G XP_024303445.1:p.Ile722Ser
XM_024447680.1:c.2783T>G XP_024303448.1:p.Ile928Ser
NM_024757.5:c.3041T>G MANE Select NP_079033.4:p.Ile1014Ser
NM_001354263.2:c.3020T>G NP_001341192.1:p.Ile1007Ser