Canonical Allele Identifier: CA1826889060
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.414857T= , CM000671.2:g.414857T= GRCh38
NC_000009.11:g.414857T= , CM000671.1:g.414857T= GRCh37
NC_000009.10:g.404857T= NCBI36
NG_017007.1:g.204993T= , LRG_196:g.204993T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.3306T= ENSP00000371766.2:p.Cys1102=
ENST00000683406.1:n.127T=
ENST00000685949.1:n.2394T=
ENST00000432829.7:c.3606T= MANE Select ENSP00000394888.3:p.Cys1202=
ENST00000382329.1:c.2007T= ENSP00000371766.1:p.Cys669=
ENST00000432829.6:c.3606T= ENSP00000394888.3:p.Cys1202=
ENST00000453981.5:c.3402T= ENSP00000408464.2:p.Cys1134=
ENST00000469391.5:c.3306T= ENSP00000419438.1:p.Cys1102=
ENST00000495184.5:n.5561T=
NM_001190458.1:c.3306T= NP_001177387.1:p.Cys1102=
NM_001193536.1:c.3402T= NP_001180465.1:p.Cys1134=
NM_203447.3:c.3606T= , LRG_196t1:c.3606T= NP_982272.2:p.Cys1202=
XM_011518045.1:c.3306T= XP_011516347.1:p.Cys1102=
XM_011518046.1:c.3468T= XP_011516348.1:p.Cys1156=
XM_011518047.1:c.3402T= XP_011516349.1:p.Cys1134=
XM_011518048.1:c.3402T= XP_011516350.1:p.Cys1134=
XM_011518049.1:c.1842T= XP_011516351.1:p.Cys614=
XM_011518045.3:c.3306T= XP_011516347.1:p.Cys1102=
XM_011518046.2:c.3468T= XP_011516348.1:p.Cys1156=
XM_011518047.3:c.3402T= XP_011516349.1:p.Cys1134=
XM_011518048.2:c.3402T= XP_011516350.1:p.Cys1134=
XM_011518049.2:c.1842T= XP_011516351.1:p.Cys614=
XM_017015173.1:c.3402T= XP_016870662.1:p.Cys1134=
XM_017015174.1:c.3468T= XP_016870663.1:p.Cys1156=
NM_001190458.2:c.3306T= NP_001177387.1:p.Cys1102=
NM_001193536.2:c.3402T= NP_001180465.1:p.Cys1134=
NM_203447.4:c.3606T= MANE Select NP_982272.2:p.Cys1202=