Canonical Allele Identifier: CA1826874076
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377139C= , CM000671.2:g.377139C= GRCh38
NC_000009.11:g.377139C= , CM000671.1:g.377139C= GRCh37
NC_000009.10:g.367139C= NCBI36
NG_017007.1:g.167275C= , LRG_196:g.167275C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2164C= ENSP00000371766.2:p.Leu722=
ENST00000382331.6:n.865C=
ENST00000483757.6:c.*1055C= ENSP00000417691.2:n.*1055C=
ENST00000682260.1:n.2264C=
ENST00000685949.1:n.1156C=
ENST00000432829.7:c.2368C= MANE Select ENSP00000394888.3:p.Leu790=
ENST00000382329.1:c.769C= ENSP00000371766.1:p.Leu257=
ENST00000382331.5:c.274C= ENSP00000371768.1:p.Leu92=
ENST00000432829.6:c.2368C= ENSP00000394888.3:p.Leu790=
ENST00000453981.5:c.2164C= ENSP00000408464.2:p.Leu722=
ENST00000469391.5:c.2164C= ENSP00000419438.1:p.Leu722=
ENST00000483757.5:c.*1843C= ENSP00000417691.1:n.*1843C=
ENST00000495184.5:n.4323C=
NM_001190458.1:c.2164C= NP_001177387.1:p.Leu722=
NM_001193536.1:c.2164C= NP_001180465.1:p.Leu722=
NM_203447.3:c.2368C= , LRG_196t1:c.2368C= NP_982272.2:p.Leu790=
XM_011518045.1:c.2164C= XP_011516347.1:p.Leu722=
XM_011518046.1:c.2230C= XP_011516348.1:p.Leu744=
XM_011518047.1:c.2164C= XP_011516349.1:p.Leu722=
XM_011518048.1:c.2164C= XP_011516350.1:p.Leu722=
XM_011518049.1:c.604C= XP_011516351.1:p.Leu202=
XM_011518045.3:c.2164C= XP_011516347.1:p.Leu722=
XM_011518046.2:c.2230C= XP_011516348.1:p.Leu744=
XM_011518047.3:c.2164C= XP_011516349.1:p.Leu722=
XM_011518048.2:c.2164C= XP_011516350.1:p.Leu722=
XM_011518049.2:c.604C= XP_011516351.1:p.Leu202=
XM_017015173.1:c.2164C= XP_016870662.1:p.Leu722=
XM_017015174.1:c.2230C= XP_016870663.1:p.Leu744=
NM_001190458.2:c.2164C= NP_001177387.1:p.Leu722=
NM_001193536.2:c.2164C= NP_001180465.1:p.Leu722=
NM_203447.4:c.2368C= MANE Select NP_982272.2:p.Leu790=