Canonical Allele Identifier: CA372763281
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs751604323

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377100A>C , CM000671.2:g.377100A>C GRCh38
NC_000009.11:g.377100A>C , CM000671.1:g.377100A>C GRCh37
NC_000009.10:g.367100A>C NCBI36
NG_017007.1:g.167236A>C , LRG_196:g.167236A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2125A>C ENSP00000371766.2:p.Ile709Leu
ENST00000382331.6:n.826A>C
ENST00000483757.6:c.*1016A>C ENSP00000417691.2:n.*1016A>C
ENST00000682260.1:n.2225A>C
ENST00000685949.1:n.1117A>C
ENST00000432829.7:c.2329A>C MANE Select ENSP00000394888.3:p.Ile777Leu
ENST00000382329.1:c.730A>C ENSP00000371766.1:p.Ile244Leu
ENST00000382331.5:c.235A>C ENSP00000371768.1:p.Ile79Leu
ENST00000432829.6:c.2329A>C ENSP00000394888.3:p.Ile777Leu
ENST00000453981.5:c.2125A>C ENSP00000408464.2:p.Ile709Leu
ENST00000469391.5:c.2125A>C ENSP00000419438.1:p.Ile709Leu
ENST00000483757.5:c.*1804A>C ENSP00000417691.1:n.*1804A>C
ENST00000495184.5:n.4284A>C
NM_001190458.1:c.2125A>C NP_001177387.1:p.Ile709Leu
NM_001193536.1:c.2125A>C NP_001180465.1:p.Ile709Leu
NM_203447.3:c.2329A>C , LRG_196t1:c.2329A>C NP_982272.2:p.Ile777Leu
XM_011518045.1:c.2125A>C XP_011516347.1:p.Ile709Leu
XM_011518046.1:c.2191A>C XP_011516348.1:p.Ile731Leu
XM_011518047.1:c.2125A>C XP_011516349.1:p.Ile709Leu
XM_011518048.1:c.2125A>C XP_011516350.1:p.Ile709Leu
XM_011518049.1:c.565A>C XP_011516351.1:p.Ile189Leu
XM_011518045.3:c.2125A>C XP_011516347.1:p.Ile709Leu
XM_011518046.2:c.2191A>C XP_011516348.1:p.Ile731Leu
XM_011518047.3:c.2125A>C XP_011516349.1:p.Ile709Leu
XM_011518048.2:c.2125A>C XP_011516350.1:p.Ile709Leu
XM_011518049.2:c.565A>C XP_011516351.1:p.Ile189Leu
XM_017015173.1:c.2125A>C XP_016870662.1:p.Ile709Leu
XM_017015174.1:c.2191A>C XP_016870663.1:p.Ile731Leu
NM_001190458.2:c.2125A>C NP_001177387.1:p.Ile709Leu
NM_001193536.2:c.2125A>C NP_001180465.1:p.Ile709Leu
NM_203447.4:c.2329A>C MANE Select NP_982272.2:p.Ile777Leu