Canonical Allele Identifier: CA372763378
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377148C>G , CM000671.2:g.377148C>G GRCh38
NC_000009.11:g.377148C>G , CM000671.1:g.377148C>G GRCh37
NC_000009.10:g.367148C>G NCBI36
NG_017007.1:g.167284C>G , LRG_196:g.167284C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2173C>G ENSP00000371766.2:p.His725Asp
ENST00000382331.6:n.874C>G
ENST00000483757.6:c.*1064C>G ENSP00000417691.2:n.*1064C>G
ENST00000682260.1:n.2273C>G
ENST00000685949.1:n.1165C>G
ENST00000432829.7:c.2377C>G MANE Select ENSP00000394888.3:p.His793Asp
ENST00000382329.1:c.778C>G ENSP00000371766.1:p.His260Asp
ENST00000382331.5:c.283C>G ENSP00000371768.1:p.His95Asp
ENST00000432829.6:c.2377C>G ENSP00000394888.3:p.His793Asp
ENST00000453981.5:c.2173C>G ENSP00000408464.2:p.His725Asp
ENST00000469391.5:c.2173C>G ENSP00000419438.1:p.His725Asp
ENST00000483757.5:c.*1852C>G ENSP00000417691.1:n.*1852C>G
ENST00000495184.5:n.4332C>G
NM_001190458.1:c.2173C>G NP_001177387.1:p.His725Asp
NM_001193536.1:c.2173C>G NP_001180465.1:p.His725Asp
NM_203447.3:c.2377C>G , LRG_196t1:c.2377C>G NP_982272.2:p.His793Asp
XM_011518045.1:c.2173C>G XP_011516347.1:p.His725Asp
XM_011518046.1:c.2239C>G XP_011516348.1:p.His747Asp
XM_011518047.1:c.2173C>G XP_011516349.1:p.His725Asp
XM_011518048.1:c.2173C>G XP_011516350.1:p.His725Asp
XM_011518049.1:c.613C>G XP_011516351.1:p.His205Asp
XM_011518045.3:c.2173C>G XP_011516347.1:p.His725Asp
XM_011518046.2:c.2239C>G XP_011516348.1:p.His747Asp
XM_011518047.3:c.2173C>G XP_011516349.1:p.His725Asp
XM_011518048.2:c.2173C>G XP_011516350.1:p.His725Asp
XM_011518049.2:c.613C>G XP_011516351.1:p.His205Asp
XM_017015173.1:c.2173C>G XP_016870662.1:p.His725Asp
XM_017015174.1:c.2239C>G XP_016870663.1:p.His747Asp
NM_001190458.2:c.2173C>G NP_001177387.1:p.His725Asp
NM_001193536.2:c.2173C>G NP_001180465.1:p.His725Asp
NM_203447.4:c.2377C>G MANE Select NP_982272.2:p.His793Asp