Canonical Allele Identifier: CA5375062
Community Standard Title: NM_024757.5(EHMT1):c.2797C>T (p.His933Tyr)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137811545C>T , CM000671.2:g.137811545C>T GRCh38
NC_000009.11:g.140705997C>T , CM000671.1:g.140705997C>T GRCh37
NC_000009.10:g.139825818C>T NCBI36
NG_011776.1:g.197554C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2797C>T MANE Select NP_079033.4:p.His933Tyr
ENST00000460843.6:c.2797C>T MANE Select ENSP00000417980.1:p.His933Tyr
NM_001354263.1:c.2776C>T NP_001341192.1:p.His926Tyr
NM_001354263.2:c.2776C>T NP_001341192.1:p.His926Tyr
NM_024757.4:c.2797C>T NP_079033.4:p.His933Tyr
ENST00000460843.5:c.2797C>T ENSP00000417980.1:p.His933Tyr
ENST00000462942.3:c.1654C>T ENSP00000436107.1:p.His552Tyr
ENST00000486164.5:c.484C>T
ENST00000488242.2:n.323C>T
ENST00000636027.1:c.2683C>T ENSP00000489961.1:p.His895Tyr
ENST00000637161.1:c.2704C>T ENSP00000490328.1:p.His902Tyr
ENST00000637261.1:c.2837C>T ENSP00000490815.1:n.2837C>T
ENST00000637891.1:c.691C>T ENSP00000490907.1:p.His231Tyr
XM_005266105.3:c.2788C>T XP_005266162.1:p.His930Tyr
XM_005266105.5:c.2788C>T XP_005266162.1:p.His930Tyr
XM_005266110.1:c.2704C>T XP_005266167.1:p.His902Tyr
XM_006717288.2:c.2779C>T XP_006717351.1:p.His927Tyr
XM_011519021.1:c.2806C>T XP_011517323.1:p.His936Tyr
XM_011519021.3:c.2806C>T XP_011517323.1:p.His936Tyr
XM_011519022.1:c.2803C>T XP_011517324.1:p.His935Tyr
XM_011519022.3:c.2803C>T XP_011517324.1:p.His935Tyr
XM_011519023.1:c.2785C>T XP_011517325.1:p.His929Tyr
XM_011519023.3:c.2785C>T XP_011517325.1:p.His929Tyr
XM_011519024.1:c.2728C>T XP_011517326.1:p.His910Tyr
XM_011519025.1:c.2704C>T XP_011517327.1:p.His902Tyr
XM_011519026.1:c.2662C>T XP_011517328.1:p.His888Tyr
XM_011519029.1:c.1228C>T XP_011517331.1:p.His410Tyr
XM_011519029.3:c.1228C>T XP_011517331.1:p.His410Tyr
XM_011519030.1:c.580C>T XP_011517332.1:p.His194Tyr
XM_011519030.3:c.580C>T XP_011517332.1:p.His194Tyr
XM_011519031.1:c.367C>T XP_011517333.1:p.His123Tyr
XM_011519032.1:c.367C>T XP_011517334.1:p.His123Tyr
XM_011519033.1:c.2641C>T XP_011517335.1:p.His881Tyr
XM_017015134.1:c.2782C>T XP_016870623.1:p.His928Tyr
XM_017015136.2:c.2698C>T XP_016870625.1:p.His900Tyr
XM_017015137.1:c.2683C>T XP_016870626.1:p.His895Tyr
XM_017015138.1:c.2683C>T XP_016870627.1:p.His895Tyr
XM_024447674.1:c.2626C>T XP_024303442.1:p.His876Tyr
XM_024447675.1:c.2560C>T XP_024303443.1:p.His854Tyr
XM_024447676.1:c.1921C>T XP_024303444.1:p.His641Tyr
XM_024447677.1:c.1921C>T XP_024303445.1:p.His641Tyr
XM_024447680.1:c.2539C>T XP_024303448.1:p.His847Tyr