Canonical Allele Identifier: CA375787995
Community Standard Title: NM_024757.5(EHMT1):c.2525G>A (p.Cys842Tyr)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137798832G>A , CM000671.2:g.137798832G>A GRCh38
NC_000009.11:g.140693284G>A , CM000671.1:g.140693284G>A GRCh37
NC_000009.10:g.139813105G>A NCBI36
NG_011776.1:g.184841G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2525G>A MANE Select NP_079033.4:p.Cys842Tyr
ENST00000460843.6:c.2525G>A MANE Select ENSP00000417980.1:p.Cys842Tyr
NM_001354263.1:c.2504G>A NP_001341192.1:p.Cys835Tyr
NM_001354263.2:c.2504G>A NP_001341192.1:p.Cys835Tyr
NM_024757.4:c.2525G>A NP_079033.4:p.Cys842Tyr
ENST00000460843.5:c.2525G>A ENSP00000417980.1:p.Cys842Tyr
ENST00000462942.3:c.1382G>A ENSP00000436107.1:p.Cys461Tyr
ENST00000482340.5:c.95G>A ENSP00000486748.1:p.Cys32Tyr
ENST00000486164.5:c.103G>A
ENST00000493484.5:c.95G>A ENSP00000486503.1:p.Cys32Tyr
ENST00000636027.1:c.2411G>A ENSP00000489961.1:p.Cys804Tyr
ENST00000637161.1:c.2432G>A ENSP00000490328.1:p.Cys811Tyr
ENST00000637261.1:c.2565G>A ENSP00000490815.1:n.2565G>A
ENST00000637277.1:n.91G>A
ENST00000637891.1:c.419G>A ENSP00000490907.1:p.Cys140Tyr
ENST00000637949.1:c.203G>A ENSP00000489786.1:p.Cys68Tyr
XM_005266105.3:c.2516G>A XP_005266162.1:p.Cys839Tyr
XM_005266105.5:c.2516G>A XP_005266162.1:p.Cys839Tyr
XM_005266110.1:c.2432G>A XP_005266167.1:p.Cys811Tyr
XM_006717288.2:c.2507G>A XP_006717351.1:p.Cys836Tyr
XM_011519021.1:c.2534G>A XP_011517323.1:p.Cys845Tyr
XM_011519021.3:c.2534G>A XP_011517323.1:p.Cys845Tyr
XM_011519022.1:c.2531G>A XP_011517324.1:p.Cys844Tyr
XM_011519022.3:c.2531G>A XP_011517324.1:p.Cys844Tyr
XM_011519023.1:c.2513G>A XP_011517325.1:p.Cys838Tyr
XM_011519023.3:c.2513G>A XP_011517325.1:p.Cys838Tyr
XM_011519024.1:c.2456G>A XP_011517326.1:p.Cys819Tyr
XM_011519025.1:c.2432G>A XP_011517327.1:p.Cys811Tyr
XM_011519026.1:c.2390G>A XP_011517328.1:p.Cys797Tyr
XM_011519027.1:c.2534G>A XP_011517329.1:p.Cys845Tyr
XM_011519029.1:c.956G>A XP_011517331.1:p.Cys319Tyr
XM_011519029.3:c.956G>A XP_011517331.1:p.Cys319Tyr
XM_011519030.1:c.308G>A XP_011517332.1:p.Cys103Tyr
XM_011519030.3:c.308G>A XP_011517332.1:p.Cys103Tyr
XM_011519031.1:c.95G>A XP_011517333.1:p.Cys32Tyr
XM_011519032.1:c.95G>A XP_011517334.1:p.Cys32Tyr
XM_011519033.1:c.2369G>A XP_011517335.1:p.Cys790Tyr
XM_017015134.1:c.2510G>A XP_016870623.1:p.Cys837Tyr
XM_017015136.2:c.2426G>A XP_016870625.1:p.Cys809Tyr
XM_017015137.1:c.2411G>A XP_016870626.1:p.Cys804Tyr
XM_017015138.1:c.2411G>A XP_016870627.1:p.Cys804Tyr
XM_024447674.1:c.2354G>A XP_024303442.1:p.Cys785Tyr
XM_024447675.1:c.2288G>A XP_024303443.1:p.Cys763Tyr
XM_024447676.1:c.1649G>A XP_024303444.1:p.Cys550Tyr
XM_024447677.1:c.1649G>A XP_024303445.1:p.Cys550Tyr
XM_024447678.1:c.2432G>A XP_024303446.1:p.Cys811Tyr
XM_024447680.1:c.2267G>A XP_024303448.1:p.Cys756Tyr