Canonical Allele Identifier: CA372763175
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377053A>C , CM000671.2:g.377053A>C GRCh38
NC_000009.11:g.377053A>C , CM000671.1:g.377053A>C GRCh37
NC_000009.10:g.367053A>C NCBI36
NG_017007.1:g.167189A>C , LRG_196:g.167189A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2078A>C ENSP00000371766.2:p.Asp693Ala
ENST00000382331.6:n.779A>C
ENST00000483757.6:c.*969A>C ENSP00000417691.2:n.*969A>C
ENST00000682260.1:n.2178A>C
ENST00000685949.1:n.1070A>C
ENST00000432829.7:c.2282A>C MANE Select ENSP00000394888.3:p.Asp761Ala
ENST00000382329.1:c.683A>C ENSP00000371766.1:p.Asp228Ala
ENST00000382331.5:c.188A>C ENSP00000371768.1:p.Asp63Ala
ENST00000432829.6:c.2282A>C ENSP00000394888.3:p.Asp761Ala
ENST00000453981.5:c.2078A>C ENSP00000408464.2:p.Asp693Ala
ENST00000469391.5:c.2078A>C ENSP00000419438.1:p.Asp693Ala
ENST00000483757.5:c.*1757A>C ENSP00000417691.1:n.*1757A>C
ENST00000495184.5:n.4237A>C
NM_001190458.1:c.2078A>C NP_001177387.1:p.Asp693Ala
NM_001193536.1:c.2078A>C NP_001180465.1:p.Asp693Ala
NM_203447.3:c.2282A>C , LRG_196t1:c.2282A>C NP_982272.2:p.Asp761Ala
XM_011518045.1:c.2078A>C XP_011516347.1:p.Asp693Ala
XM_011518046.1:c.2144A>C XP_011516348.1:p.Asp715Ala
XM_011518047.1:c.2078A>C XP_011516349.1:p.Asp693Ala
XM_011518048.1:c.2078A>C XP_011516350.1:p.Asp693Ala
XM_011518049.1:c.518A>C XP_011516351.1:p.Asp173Ala
XM_011518045.3:c.2078A>C XP_011516347.1:p.Asp693Ala
XM_011518046.2:c.2144A>C XP_011516348.1:p.Asp715Ala
XM_011518047.3:c.2078A>C XP_011516349.1:p.Asp693Ala
XM_011518048.2:c.2078A>C XP_011516350.1:p.Asp693Ala
XM_011518049.2:c.518A>C XP_011516351.1:p.Asp173Ala
XM_017015173.1:c.2078A>C XP_016870662.1:p.Asp693Ala
XM_017015174.1:c.2144A>C XP_016870663.1:p.Asp715Ala
NM_001190458.2:c.2078A>C NP_001177387.1:p.Asp693Ala
NM_001193536.2:c.2078A>C NP_001180465.1:p.Asp693Ala
NM_203447.4:c.2282A>C MANE Select NP_982272.2:p.Asp761Ala