Canonical Allele Identifier: CA375793178
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813011T>C , CM000671.2:g.137813011T>C GRCh38
NC_000009.11:g.140707463T>C , CM000671.1:g.140707463T>C GRCh37
NC_000009.10:g.139827284T>C NCBI36
NG_011776.1:g.199020T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.2873T>C MANE Select ENSP00000417980.1:p.Phe958Ser
ENST00000636027.1:c.2759T>C ENSP00000489961.1:p.Phe920Ser
ENST00000637161.1:c.2780T>C ENSP00000490328.1:p.Phe927Ser
ENST00000637261.1:c.2913T>C ENSP00000490815.1:n.2913T>C
ENST00000637891.1:c.767T>C ENSP00000490907.1:p.Phe256Ser
ENST00000460843.5:c.2873T>C ENSP00000417980.1:p.Phe958Ser
ENST00000462942.3:c.1730T>C ENSP00000436107.1:p.Phe577Ser
ENST00000486164.5:c.560T>C
ENST00000488242.2:n.399T>C
NM_024757.4:c.2873T>C NP_079033.4:p.Phe958Ser
XM_005266105.3:c.2864T>C XP_005266162.1:p.Phe955Ser
XM_005266110.1:c.2780T>C XP_005266167.1:p.Phe927Ser
XM_006717288.2:c.2855T>C XP_006717351.1:p.Phe952Ser
XM_011519021.1:c.2882T>C XP_011517323.1:p.Phe961Ser
XM_011519022.1:c.2879T>C XP_011517324.1:p.Phe960Ser
XM_011519023.1:c.2861T>C XP_011517325.1:p.Phe954Ser
XM_011519024.1:c.2804T>C XP_011517326.1:p.Phe935Ser
XM_011519025.1:c.2780T>C XP_011517327.1:p.Phe927Ser
XM_011519026.1:c.2738T>C XP_011517328.1:p.Phe913Ser
XM_011519029.1:c.1304T>C XP_011517331.1:p.Phe435Ser
XM_011519030.1:c.656T>C XP_011517332.1:p.Phe219Ser
XM_011519031.1:c.443T>C XP_011517333.1:p.Phe148Ser
XM_011519032.1:c.443T>C XP_011517334.1:p.Phe148Ser
XM_011519033.1:c.2717T>C XP_011517335.1:p.Phe906Ser
NM_001354263.1:c.2852T>C NP_001341192.1:p.Phe951Ser
XM_005266105.5:c.2864T>C XP_005266162.1:p.Phe955Ser
XM_011519021.3:c.2882T>C XP_011517323.1:p.Phe961Ser
XM_011519022.3:c.2879T>C XP_011517324.1:p.Phe960Ser
XM_011519023.3:c.2861T>C XP_011517325.1:p.Phe954Ser
XM_011519029.3:c.1304T>C XP_011517331.1:p.Phe435Ser
XM_011519030.3:c.656T>C XP_011517332.1:p.Phe219Ser
XM_017015134.1:c.2858T>C XP_016870623.1:p.Phe953Ser
XM_017015136.2:c.2774T>C XP_016870625.1:p.Phe925Ser
XM_017015137.1:c.2759T>C XP_016870626.1:p.Phe920Ser
XM_017015138.1:c.2759T>C XP_016870627.1:p.Phe920Ser
XM_024447674.1:c.2702T>C XP_024303442.1:p.Phe901Ser
XM_024447675.1:c.2636T>C XP_024303443.1:p.Phe879Ser
XM_024447676.1:c.1997T>C XP_024303444.1:p.Phe666Ser
XM_024447677.1:c.1997T>C XP_024303445.1:p.Phe666Ser
XM_024447680.1:c.2615T>C XP_024303448.1:p.Phe872Ser
NM_024757.5:c.2873T>C MANE Select NP_079033.4:p.Phe958Ser
NM_001354263.2:c.2852T>C NP_001341192.1:p.Phe951Ser