Canonical Allele Identifier: CA375793554
Community Standard Title: NM_024757.5(EHMT1):c.2968C>T (p.Gln990Ter)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813106C>T , CM000671.2:g.137813106C>T GRCh38
NC_000009.11:g.140707558C>T , CM000671.1:g.140707558C>T GRCh37
NC_000009.10:g.139827379C>T NCBI36
NG_011776.1:g.199115C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2968C>T MANE Select NP_079033.4:p.Gln990Ter
ENST00000460843.6:c.2968C>T MANE Select ENSP00000417980.1:p.Gln990Ter
NM_001354263.1:c.2947C>T NP_001341192.1:p.Gln983Ter
NM_001354263.2:c.2947C>T NP_001341192.1:p.Gln983Ter
NM_024757.4:c.2968C>T NP_079033.4:p.Gln990Ter
ENST00000460843.5:c.2968C>T ENSP00000417980.1:p.Gln990Ter
ENST00000462942.3:c.1825C>T ENSP00000436107.1:p.Gln609Ter
ENST00000486164.5:c.655C>T
ENST00000488242.2:n.494C>T
ENST00000636027.1:c.2854C>T ENSP00000489961.1:p.Gln952Ter
ENST00000637161.1:c.2875C>T ENSP00000490328.1:p.Gln959Ter
ENST00000637261.1:c.3008C>T ENSP00000490815.1:n.3008C>T
ENST00000637891.1:c.862C>T ENSP00000490907.1:p.Gln288Ter
XM_005266105.3:c.2959C>T XP_005266162.1:p.Gln987Ter
XM_005266105.5:c.2959C>T XP_005266162.1:p.Gln987Ter
XM_005266110.1:c.2875C>T XP_005266167.1:p.Gln959Ter
XM_006717288.2:c.2950C>T XP_006717351.1:p.Gln984Ter
XM_011519021.1:c.2977C>T XP_011517323.1:p.Gln993Ter
XM_011519021.3:c.2977C>T XP_011517323.1:p.Gln993Ter
XM_011519022.1:c.2974C>T XP_011517324.1:p.Gln992Ter
XM_011519022.3:c.2974C>T XP_011517324.1:p.Gln992Ter
XM_011519023.1:c.2956C>T XP_011517325.1:p.Gln986Ter
XM_011519023.3:c.2956C>T XP_011517325.1:p.Gln986Ter
XM_011519024.1:c.2899C>T XP_011517326.1:p.Gln967Ter
XM_011519025.1:c.2875C>T XP_011517327.1:p.Gln959Ter
XM_011519026.1:c.2833C>T XP_011517328.1:p.Gln945Ter
XM_011519029.1:c.1399C>T XP_011517331.1:p.Gln467Ter
XM_011519029.3:c.1399C>T XP_011517331.1:p.Gln467Ter
XM_011519030.1:c.751C>T XP_011517332.1:p.Gln251Ter
XM_011519030.3:c.751C>T XP_011517332.1:p.Gln251Ter
XM_011519031.1:c.538C>T XP_011517333.1:p.Gln180Ter
XM_011519032.1:c.538C>T XP_011517334.1:p.Gln180Ter
XM_011519033.1:c.2812C>T XP_011517335.1:p.Gln938Ter
XM_017015134.1:c.2953C>T XP_016870623.1:p.Gln985Ter
XM_017015136.2:c.2869C>T XP_016870625.1:p.Gln957Ter
XM_017015137.1:c.2854C>T XP_016870626.1:p.Gln952Ter
XM_017015138.1:c.2854C>T XP_016870627.1:p.Gln952Ter
XM_024447674.1:c.2797C>T XP_024303442.1:p.Gln933Ter
XM_024447675.1:c.2731C>T XP_024303443.1:p.Gln911Ter
XM_024447676.1:c.2092C>T XP_024303444.1:p.Gln698Ter
XM_024447677.1:c.2092C>T XP_024303445.1:p.Gln698Ter
XM_024447680.1:c.2710C>T XP_024303448.1:p.Gln904Ter