Canonical Allele Identifier: CA1884686457
Community Standard Title: NM_024757.5(EHMT1):c.3218G= (p.Cys1073=)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137814468G= , CM000671.2:g.137814468G= GRCh38
NC_000009.11:g.140708920G= , CM000671.1:g.140708920G= GRCh37
NC_000009.10:g.139828741G= NCBI36
NG_011776.1:g.200477G=

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3218G= MANE Select NP_079033.4:p.Cys1073=
ENST00000460843.6:c.3218G= MANE Select ENSP00000417980.1:p.Cys1073=
NM_001354263.1:c.3197G= NP_001341192.1:p.Cys1066=
NM_001354263.2:c.3197G= NP_001341192.1:p.Cys1066=
NM_024757.4:c.3218G= NP_079033.4:p.Cys1073=
ENST00000460843.5:c.3218G= ENSP00000417980.1:p.Cys1073=
ENST00000462942.3:c.2075G= ENSP00000436107.1:p.Cys692=
ENST00000483653.1:n.78G=
ENST00000488242.2:n.744G=
ENST00000637161.1:c.3125G= ENSP00000490328.1:p.Cys1042=
ENST00000637261.1:c.3258G= ENSP00000490815.1:n.3258G=
ENST00000637407.1:n.9G=
ENST00000637891.1:c.1292G= ENSP00000490907.1:n.1292G=
XM_005266105.3:c.3209G= XP_005266162.1:p.Cys1070=
XM_005266105.5:c.3209G= XP_005266162.1:p.Cys1070=
XM_005266110.1:c.3125G= XP_005266167.1:p.Cys1042=
XM_006717288.2:c.3200G= XP_006717351.1:p.Cys1067=
XM_011519021.1:c.3227G= XP_011517323.1:p.Cys1076=
XM_011519021.3:c.3227G= XP_011517323.1:p.Cys1076=
XM_011519022.1:c.3224G= XP_011517324.1:p.Cys1075=
XM_011519022.3:c.3224G= XP_011517324.1:p.Cys1075=
XM_011519023.1:c.3206G= XP_011517325.1:p.Cys1069=
XM_011519023.3:c.3206G= XP_011517325.1:p.Cys1069=
XM_011519024.1:c.3149G= XP_011517326.1:p.Cys1050=
XM_011519025.1:c.3125G= XP_011517327.1:p.Cys1042=
XM_011519026.1:c.3083G= XP_011517328.1:p.Cys1028=
XM_011519029.1:c.1649G= XP_011517331.1:p.Cys550=
XM_011519029.3:c.1649G= XP_011517331.1:p.Cys550=
XM_011519030.1:c.1001G= XP_011517332.1:p.Cys334=
XM_011519030.3:c.1001G= XP_011517332.1:p.Cys334=
XM_011519031.1:c.788G= XP_011517333.1:p.Cys263=
XM_011519032.1:c.788G= XP_011517334.1:p.Cys263=
XM_011519033.1:c.3062G= XP_011517335.1:p.Cys1021=
XM_017015134.1:c.3203G= XP_016870623.1:p.Cys1068=
XM_017015136.2:c.3119G= XP_016870625.1:p.Cys1040=
XM_017015137.1:c.3104G= XP_016870626.1:p.Cys1035=
XM_017015138.1:c.3104G= XP_016870627.1:p.Cys1035=
XM_024447674.1:c.3047G= XP_024303442.1:p.Cys1016=
XM_024447675.1:c.2981G= XP_024303443.1:p.Cys994=
XM_024447676.1:c.2342G= XP_024303444.1:p.Cys781=
XM_024447677.1:c.2342G= XP_024303445.1:p.Cys781=
XM_024447680.1:c.2960G= XP_024303448.1:p.Cys987=