Canonical Allele Identifier: CA372763414
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-377161-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377161A>T , CM000671.2:g.377161A>T GRCh38
NC_000009.11:g.377161A>T , CM000671.1:g.377161A>T GRCh37
NC_000009.10:g.367161A>T NCBI36
NG_017007.1:g.167297A>T , LRG_196:g.167297A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2186A>T ENSP00000371766.2:p.Asp729Val
ENST00000382331.6:n.887A>T
ENST00000483757.6:c.*1077A>T ENSP00000417691.2:n.*1077A>T
ENST00000682260.1:n.2286A>T
ENST00000685949.1:n.1178A>T
ENST00000432829.7:c.2390A>T MANE Select ENSP00000394888.3:p.Asp797Val
ENST00000382329.1:c.791A>T ENSP00000371766.1:p.Asp264Val
ENST00000382331.5:c.296A>T ENSP00000371768.1:p.Asp99Val
ENST00000432829.6:c.2390A>T ENSP00000394888.3:p.Asp797Val
ENST00000453981.5:c.2186A>T ENSP00000408464.2:p.Asp729Val
ENST00000469391.5:c.2186A>T ENSP00000419438.1:p.Asp729Val
ENST00000483757.5:c.*1865A>T ENSP00000417691.1:n.*1865A>T
ENST00000495184.5:n.4345A>T
NM_001190458.1:c.2186A>T NP_001177387.1:p.Asp729Val
NM_001193536.1:c.2186A>T NP_001180465.1:p.Asp729Val
NM_203447.3:c.2390A>T , LRG_196t1:c.2390A>T NP_982272.2:p.Asp797Val
XM_011518045.1:c.2186A>T XP_011516347.1:p.Asp729Val
XM_011518046.1:c.2252A>T XP_011516348.1:p.Asp751Val
XM_011518047.1:c.2186A>T XP_011516349.1:p.Asp729Val
XM_011518048.1:c.2186A>T XP_011516350.1:p.Asp729Val
XM_011518049.1:c.626A>T XP_011516351.1:p.Asp209Val
XM_011518045.3:c.2186A>T XP_011516347.1:p.Asp729Val
XM_011518046.2:c.2252A>T XP_011516348.1:p.Asp751Val
XM_011518047.3:c.2186A>T XP_011516349.1:p.Asp729Val
XM_011518048.2:c.2186A>T XP_011516350.1:p.Asp729Val
XM_011518049.2:c.626A>T XP_011516351.1:p.Asp209Val
XM_017015173.1:c.2186A>T XP_016870662.1:p.Asp729Val
XM_017015174.1:c.2252A>T XP_016870663.1:p.Asp751Val
NM_001190458.2:c.2186A>T NP_001177387.1:p.Asp729Val
NM_001193536.2:c.2186A>T NP_001180465.1:p.Asp729Val
NM_203447.4:c.2390A>T MANE Select NP_982272.2:p.Asp797Val