Canonical Allele Identifier: CA375788023
Community Standard Title: NM_024757.5(EHMT1):c.2530C>T (p.His844Tyr)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137798837C>T , CM000671.2:g.137798837C>T GRCh38
NC_000009.11:g.140693289C>T , CM000671.1:g.140693289C>T GRCh37
NC_000009.10:g.139813110C>T NCBI36
NG_011776.1:g.184846C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2530C>T MANE Select NP_079033.4:p.His844Tyr
ENST00000460843.6:c.2530C>T MANE Select ENSP00000417980.1:p.His844Tyr
NM_001354263.1:c.2509C>T NP_001341192.1:p.His837Tyr
NM_001354263.2:c.2509C>T NP_001341192.1:p.His837Tyr
NM_024757.4:c.2530C>T NP_079033.4:p.His844Tyr
ENST00000460843.5:c.2530C>T ENSP00000417980.1:p.His844Tyr
ENST00000462942.3:c.1387C>T ENSP00000436107.1:p.His463Tyr
ENST00000482340.5:c.100C>T ENSP00000486748.1:p.His34Tyr
ENST00000486164.5:c.108C>T
ENST00000493484.5:c.100C>T ENSP00000486503.1:p.His34Tyr
ENST00000636027.1:c.2416C>T ENSP00000489961.1:p.His806Tyr
ENST00000637161.1:c.2437C>T ENSP00000490328.1:p.His813Tyr
ENST00000637261.1:c.2570C>T ENSP00000490815.1:n.2570C>T
ENST00000637277.1:n.96C>T
ENST00000637891.1:c.424C>T ENSP00000490907.1:p.His142Tyr
ENST00000637949.1:c.208C>T ENSP00000489786.1:p.His70Tyr
XM_005266105.3:c.2521C>T XP_005266162.1:p.His841Tyr
XM_005266105.5:c.2521C>T XP_005266162.1:p.His841Tyr
XM_005266110.1:c.2437C>T XP_005266167.1:p.His813Tyr
XM_006717288.2:c.2512C>T XP_006717351.1:p.His838Tyr
XM_011519021.1:c.2539C>T XP_011517323.1:p.His847Tyr
XM_011519021.3:c.2539C>T XP_011517323.1:p.His847Tyr
XM_011519022.1:c.2536C>T XP_011517324.1:p.His846Tyr
XM_011519022.3:c.2536C>T XP_011517324.1:p.His846Tyr
XM_011519023.1:c.2518C>T XP_011517325.1:p.His840Tyr
XM_011519023.3:c.2518C>T XP_011517325.1:p.His840Tyr
XM_011519024.1:c.2461C>T XP_011517326.1:p.His821Tyr
XM_011519025.1:c.2437C>T XP_011517327.1:p.His813Tyr
XM_011519026.1:c.2395C>T XP_011517328.1:p.His799Tyr
XM_011519027.1:c.2539C>T XP_011517329.1:p.His847Tyr
XM_011519029.1:c.961C>T XP_011517331.1:p.His321Tyr
XM_011519029.3:c.961C>T XP_011517331.1:p.His321Tyr
XM_011519030.1:c.313C>T XP_011517332.1:p.His105Tyr
XM_011519030.3:c.313C>T XP_011517332.1:p.His105Tyr
XM_011519031.1:c.100C>T XP_011517333.1:p.His34Tyr
XM_011519032.1:c.100C>T XP_011517334.1:p.His34Tyr
XM_011519033.1:c.2374C>T XP_011517335.1:p.His792Tyr
XM_017015134.1:c.2515C>T XP_016870623.1:p.His839Tyr
XM_017015136.2:c.2431C>T XP_016870625.1:p.His811Tyr
XM_017015137.1:c.2416C>T XP_016870626.1:p.His806Tyr
XM_017015138.1:c.2416C>T XP_016870627.1:p.His806Tyr
XM_024447674.1:c.2359C>T XP_024303442.1:p.His787Tyr
XM_024447675.1:c.2293C>T XP_024303443.1:p.His765Tyr
XM_024447676.1:c.1654C>T XP_024303444.1:p.His552Tyr
XM_024447677.1:c.1654C>T XP_024303445.1:p.His552Tyr
XM_024447678.1:c.2437C>T XP_024303446.1:p.His813Tyr
XM_024447680.1:c.2272C>T XP_024303448.1:p.His758Tyr