Canonical Allele Identifier: CA375793173
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813010T>C , CM000671.2:g.137813010T>C GRCh38
NC_000009.11:g.140707462T>C , CM000671.1:g.140707462T>C GRCh37
NC_000009.10:g.139827283T>C NCBI36
NG_011776.1:g.199019T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.2872T>C MANE Select ENSP00000417980.1:p.Phe958Leu
ENST00000636027.1:c.2758T>C ENSP00000489961.1:p.Phe920Leu
ENST00000637161.1:c.2779T>C ENSP00000490328.1:p.Phe927Leu
ENST00000637261.1:c.2912T>C ENSP00000490815.1:n.2912T>C
ENST00000637891.1:c.766T>C ENSP00000490907.1:p.Phe256Leu
ENST00000460843.5:c.2872T>C ENSP00000417980.1:p.Phe958Leu
ENST00000462942.3:c.1729T>C ENSP00000436107.1:p.Phe577Leu
ENST00000486164.5:c.559T>C
ENST00000488242.2:n.398T>C
NM_024757.4:c.2872T>C NP_079033.4:p.Phe958Leu
XM_005266105.3:c.2863T>C XP_005266162.1:p.Phe955Leu
XM_005266110.1:c.2779T>C XP_005266167.1:p.Phe927Leu
XM_006717288.2:c.2854T>C XP_006717351.1:p.Phe952Leu
XM_011519021.1:c.2881T>C XP_011517323.1:p.Phe961Leu
XM_011519022.1:c.2878T>C XP_011517324.1:p.Phe960Leu
XM_011519023.1:c.2860T>C XP_011517325.1:p.Phe954Leu
XM_011519024.1:c.2803T>C XP_011517326.1:p.Phe935Leu
XM_011519025.1:c.2779T>C XP_011517327.1:p.Phe927Leu
XM_011519026.1:c.2737T>C XP_011517328.1:p.Phe913Leu
XM_011519029.1:c.1303T>C XP_011517331.1:p.Phe435Leu
XM_011519030.1:c.655T>C XP_011517332.1:p.Phe219Leu
XM_011519031.1:c.442T>C XP_011517333.1:p.Phe148Leu
XM_011519032.1:c.442T>C XP_011517334.1:p.Phe148Leu
XM_011519033.1:c.2716T>C XP_011517335.1:p.Phe906Leu
NM_001354263.1:c.2851T>C NP_001341192.1:p.Phe951Leu
XM_005266105.5:c.2863T>C XP_005266162.1:p.Phe955Leu
XM_011519021.3:c.2881T>C XP_011517323.1:p.Phe961Leu
XM_011519022.3:c.2878T>C XP_011517324.1:p.Phe960Leu
XM_011519023.3:c.2860T>C XP_011517325.1:p.Phe954Leu
XM_011519029.3:c.1303T>C XP_011517331.1:p.Phe435Leu
XM_011519030.3:c.655T>C XP_011517332.1:p.Phe219Leu
XM_017015134.1:c.2857T>C XP_016870623.1:p.Phe953Leu
XM_017015136.2:c.2773T>C XP_016870625.1:p.Phe925Leu
XM_017015137.1:c.2758T>C XP_016870626.1:p.Phe920Leu
XM_017015138.1:c.2758T>C XP_016870627.1:p.Phe920Leu
XM_024447674.1:c.2701T>C XP_024303442.1:p.Phe901Leu
XM_024447675.1:c.2635T>C XP_024303443.1:p.Phe879Leu
XM_024447676.1:c.1996T>C XP_024303444.1:p.Phe666Leu
XM_024447677.1:c.1996T>C XP_024303445.1:p.Phe666Leu
XM_024447680.1:c.2614T>C XP_024303448.1:p.Phe872Leu
NM_024757.5:c.2872T>C MANE Select NP_079033.4:p.Phe958Leu
NM_001354263.2:c.2851T>C NP_001341192.1:p.Phe951Leu