Canonical Allele Identifier: CA372761054
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.414923T>A , CM000671.2:g.414923T>A GRCh38
NC_000009.11:g.414923T>A , CM000671.1:g.414923T>A GRCh37
NC_000009.10:g.404923T>A NCBI36
NG_017007.1:g.205059T>A , LRG_196:g.205059T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.3372T>A ENSP00000371766.2:p.Asp1124Glu
ENST00000683406.1:n.193T>A
ENST00000685949.1:n.2460T>A
ENST00000432829.7:c.3672T>A MANE Select ENSP00000394888.3:p.Asp1224Glu
ENST00000382329.1:c.2073T>A ENSP00000371766.1:p.Asp691Glu
ENST00000432829.6:c.3672T>A ENSP00000394888.3:p.Asp1224Glu
ENST00000453981.5:c.3468T>A ENSP00000408464.2:p.Asp1156Glu
ENST00000469391.5:c.3372T>A ENSP00000419438.1:p.Asp1124Glu
ENST00000495184.5:n.5627T>A
NM_001190458.1:c.3372T>A NP_001177387.1:p.Asp1124Glu
NM_001193536.1:c.3468T>A NP_001180465.1:p.Asp1156Glu
NM_203447.3:c.3672T>A , LRG_196t1:c.3672T>A NP_982272.2:p.Asp1224Glu
XM_011518045.1:c.3372T>A XP_011516347.1:p.Asp1124Glu
XM_011518046.1:c.3534T>A XP_011516348.1:p.Asp1178Glu
XM_011518047.1:c.3468T>A XP_011516349.1:p.Asp1156Glu
XM_011518048.1:c.3468T>A XP_011516350.1:p.Asp1156Glu
XM_011518049.1:c.1908T>A XP_011516351.1:p.Asp636Glu
XM_011518045.3:c.3372T>A XP_011516347.1:p.Asp1124Glu
XM_011518046.2:c.3534T>A XP_011516348.1:p.Asp1178Glu
XM_011518047.3:c.3468T>A XP_011516349.1:p.Asp1156Glu
XM_011518048.2:c.3468T>A XP_011516350.1:p.Asp1156Glu
XM_011518049.2:c.1908T>A XP_011516351.1:p.Asp636Glu
XM_017015173.1:c.3468T>A XP_016870662.1:p.Asp1156Glu
XM_017015174.1:c.3534T>A XP_016870663.1:p.Asp1178Glu
NM_001190458.2:c.3372T>A NP_001177387.1:p.Asp1124Glu
NM_001193536.2:c.3468T>A NP_001180465.1:p.Asp1156Glu
NM_203447.4:c.3672T>A MANE Select NP_982272.2:p.Asp1224Glu