Canonical Allele Identifier: CA1826874080
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377147G= , CM000671.2:g.377147G= GRCh38
NC_000009.11:g.377147G= , CM000671.1:g.377147G= GRCh37
NC_000009.10:g.367147G= NCBI36
NG_017007.1:g.167283G= , LRG_196:g.167283G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2172G= ENSP00000371766.2:p.Leu724=
ENST00000382331.6:n.873G=
ENST00000483757.6:c.*1063G= ENSP00000417691.2:n.*1063G=
ENST00000682260.1:n.2272G=
ENST00000685949.1:n.1164G=
ENST00000432829.7:c.2376G= MANE Select ENSP00000394888.3:p.Leu792=
ENST00000382329.1:c.777G= ENSP00000371766.1:p.Leu259=
ENST00000382331.5:c.282G= ENSP00000371768.1:p.Leu94=
ENST00000432829.6:c.2376G= ENSP00000394888.3:p.Leu792=
ENST00000453981.5:c.2172G= ENSP00000408464.2:p.Leu724=
ENST00000469391.5:c.2172G= ENSP00000419438.1:p.Leu724=
ENST00000483757.5:c.*1851G= ENSP00000417691.1:n.*1851G=
ENST00000495184.5:n.4331G=
NM_001190458.1:c.2172G= NP_001177387.1:p.Leu724=
NM_001193536.1:c.2172G= NP_001180465.1:p.Leu724=
NM_203447.3:c.2376G= , LRG_196t1:c.2376G= NP_982272.2:p.Leu792=
XM_011518045.1:c.2172G= XP_011516347.1:p.Leu724=
XM_011518046.1:c.2238G= XP_011516348.1:p.Leu746=
XM_011518047.1:c.2172G= XP_011516349.1:p.Leu724=
XM_011518048.1:c.2172G= XP_011516350.1:p.Leu724=
XM_011518049.1:c.612G= XP_011516351.1:p.Leu204=
XM_011518045.3:c.2172G= XP_011516347.1:p.Leu724=
XM_011518046.2:c.2238G= XP_011516348.1:p.Leu746=
XM_011518047.3:c.2172G= XP_011516349.1:p.Leu724=
XM_011518048.2:c.2172G= XP_011516350.1:p.Leu724=
XM_011518049.2:c.612G= XP_011516351.1:p.Leu204=
XM_017015173.1:c.2172G= XP_016870662.1:p.Leu724=
XM_017015174.1:c.2238G= XP_016870663.1:p.Leu746=
NM_001190458.2:c.2172G= NP_001177387.1:p.Leu724=
NM_001193536.2:c.2172G= NP_001180465.1:p.Leu724=
NM_203447.4:c.2376G= MANE Select NP_982272.2:p.Leu792=