Canonical Allele Identifier: CA375793660
Community Standard Title: NM_024757.5(EHMT1):c.2992T>G (p.Ser998Ala)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813130T>G , CM000671.2:g.137813130T>G GRCh38
NC_000009.11:g.140707582T>G , CM000671.1:g.140707582T>G GRCh37
NC_000009.10:g.139827403T>G NCBI36
NG_011776.1:g.199139T>G

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2992T>G MANE Select NP_079033.4:p.Ser998Ala
ENST00000460843.6:c.2992T>G MANE Select ENSP00000417980.1:p.Ser998Ala
NM_001354263.1:c.2971T>G NP_001341192.1:p.Ser991Ala
NM_001354263.2:c.2971T>G NP_001341192.1:p.Ser991Ala
NM_024757.4:c.2992T>G NP_079033.4:p.Ser998Ala
ENST00000460843.5:c.2992T>G ENSP00000417980.1:p.Ser998Ala
ENST00000462942.3:c.1849T>G ENSP00000436107.1:p.Ser617Ala
ENST00000486164.5:c.679T>G
ENST00000488242.2:n.518T>G
ENST00000636027.1:c.2878T>G ENSP00000489961.1:p.Ser960Ala
ENST00000637161.1:c.2899T>G ENSP00000490328.1:p.Ser967Ala
ENST00000637261.1:c.3032T>G ENSP00000490815.1:n.3032T>G
ENST00000637891.1:c.886T>G ENSP00000490907.1:p.Ser296Ala
XM_005266105.3:c.2983T>G XP_005266162.1:p.Ser995Ala
XM_005266105.5:c.2983T>G XP_005266162.1:p.Ser995Ala
XM_005266110.1:c.2899T>G XP_005266167.1:p.Ser967Ala
XM_006717288.2:c.2974T>G XP_006717351.1:p.Ser992Ala
XM_011519021.1:c.3001T>G XP_011517323.1:p.Ser1001Ala
XM_011519021.3:c.3001T>G XP_011517323.1:p.Ser1001Ala
XM_011519022.1:c.2998T>G XP_011517324.1:p.Ser1000Ala
XM_011519022.3:c.2998T>G XP_011517324.1:p.Ser1000Ala
XM_011519023.1:c.2980T>G XP_011517325.1:p.Ser994Ala
XM_011519023.3:c.2980T>G XP_011517325.1:p.Ser994Ala
XM_011519024.1:c.2923T>G XP_011517326.1:p.Ser975Ala
XM_011519025.1:c.2899T>G XP_011517327.1:p.Ser967Ala
XM_011519026.1:c.2857T>G XP_011517328.1:p.Ser953Ala
XM_011519029.1:c.1423T>G XP_011517331.1:p.Ser475Ala
XM_011519029.3:c.1423T>G XP_011517331.1:p.Ser475Ala
XM_011519030.1:c.775T>G XP_011517332.1:p.Ser259Ala
XM_011519030.3:c.775T>G XP_011517332.1:p.Ser259Ala
XM_011519031.1:c.562T>G XP_011517333.1:p.Ser188Ala
XM_011519032.1:c.562T>G XP_011517334.1:p.Ser188Ala
XM_011519033.1:c.2836T>G XP_011517335.1:p.Ser946Ala
XM_017015134.1:c.2977T>G XP_016870623.1:p.Ser993Ala
XM_017015136.2:c.2893T>G XP_016870625.1:p.Ser965Ala
XM_017015137.1:c.2878T>G XP_016870626.1:p.Ser960Ala
XM_017015138.1:c.2878T>G XP_016870627.1:p.Ser960Ala
XM_024447674.1:c.2821T>G XP_024303442.1:p.Ser941Ala
XM_024447675.1:c.2755T>G XP_024303443.1:p.Ser919Ala
XM_024447676.1:c.2116T>G XP_024303444.1:p.Ser706Ala
XM_024447677.1:c.2116T>G XP_024303445.1:p.Ser706Ala
XM_024447680.1:c.2734T>G XP_024303448.1:p.Ser912Ala