Canonical Allele Identifier: CA1826889147
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.414914C= , CM000671.2:g.414914C= GRCh38
NC_000009.11:g.414914C= , CM000671.1:g.414914C= GRCh37
NC_000009.10:g.404914C= NCBI36
NG_017007.1:g.205050C= , LRG_196:g.205050C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.3363C= ENSP00000371766.2:p.Ile1121=
ENST00000683406.1:n.184C=
ENST00000685949.1:n.2451C=
ENST00000432829.7:c.3663C= MANE Select ENSP00000394888.3:p.Ile1221=
ENST00000382329.1:c.2064C= ENSP00000371766.1:p.Ile688=
ENST00000432829.6:c.3663C= ENSP00000394888.3:p.Ile1221=
ENST00000453981.5:c.3459C= ENSP00000408464.2:p.Ile1153=
ENST00000469391.5:c.3363C= ENSP00000419438.1:p.Ile1121=
ENST00000495184.5:n.5618C=
NM_001190458.1:c.3363C= NP_001177387.1:p.Ile1121=
NM_001193536.1:c.3459C= NP_001180465.1:p.Ile1153=
NM_203447.3:c.3663C= , LRG_196t1:c.3663C= NP_982272.2:p.Ile1221=
XM_011518045.1:c.3363C= XP_011516347.1:p.Ile1121=
XM_011518046.1:c.3525C= XP_011516348.1:p.Ile1175=
XM_011518047.1:c.3459C= XP_011516349.1:p.Ile1153=
XM_011518048.1:c.3459C= XP_011516350.1:p.Ile1153=
XM_011518049.1:c.1899C= XP_011516351.1:p.Ile633=
XM_011518045.3:c.3363C= XP_011516347.1:p.Ile1121=
XM_011518046.2:c.3525C= XP_011516348.1:p.Ile1175=
XM_011518047.3:c.3459C= XP_011516349.1:p.Ile1153=
XM_011518048.2:c.3459C= XP_011516350.1:p.Ile1153=
XM_011518049.2:c.1899C= XP_011516351.1:p.Ile633=
XM_017015173.1:c.3459C= XP_016870662.1:p.Ile1153=
XM_017015174.1:c.3525C= XP_016870663.1:p.Ile1175=
NM_001190458.2:c.3363C= NP_001177387.1:p.Ile1121=
NM_001193536.2:c.3459C= NP_001180465.1:p.Ile1153=
NM_203447.4:c.3663C= MANE Select NP_982272.2:p.Ile1221=