Canonical Allele Identifier: CA1826889126
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.414896C= , CM000671.2:g.414896C= GRCh38
NC_000009.11:g.414896C= , CM000671.1:g.414896C= GRCh37
NC_000009.10:g.404896C= NCBI36
NG_017007.1:g.205032C= , LRG_196:g.205032C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.3345C= ENSP00000371766.2:p.Tyr1115=
ENST00000683406.1:n.166C=
ENST00000685949.1:n.2433C=
ENST00000432829.7:c.3645C= MANE Select ENSP00000394888.3:p.Tyr1215=
ENST00000382329.1:c.2046C= ENSP00000371766.1:p.Tyr682=
ENST00000432829.6:c.3645C= ENSP00000394888.3:p.Tyr1215=
ENST00000453981.5:c.3441C= ENSP00000408464.2:p.Tyr1147=
ENST00000469391.5:c.3345C= ENSP00000419438.1:p.Tyr1115=
ENST00000495184.5:n.5600C=
NM_001190458.1:c.3345C= NP_001177387.1:p.Tyr1115=
NM_001193536.1:c.3441C= NP_001180465.1:p.Tyr1147=
NM_203447.3:c.3645C= , LRG_196t1:c.3645C= NP_982272.2:p.Tyr1215=
XM_011518045.1:c.3345C= XP_011516347.1:p.Tyr1115=
XM_011518046.1:c.3507C= XP_011516348.1:p.Tyr1169=
XM_011518047.1:c.3441C= XP_011516349.1:p.Tyr1147=
XM_011518048.1:c.3441C= XP_011516350.1:p.Tyr1147=
XM_011518049.1:c.1881C= XP_011516351.1:p.Tyr627=
XM_011518045.3:c.3345C= XP_011516347.1:p.Tyr1115=
XM_011518046.2:c.3507C= XP_011516348.1:p.Tyr1169=
XM_011518047.3:c.3441C= XP_011516349.1:p.Tyr1147=
XM_011518048.2:c.3441C= XP_011516350.1:p.Tyr1147=
XM_011518049.2:c.1881C= XP_011516351.1:p.Tyr627=
XM_017015173.1:c.3441C= XP_016870662.1:p.Tyr1147=
XM_017015174.1:c.3507C= XP_016870663.1:p.Tyr1169=
NM_001190458.2:c.3345C= NP_001177387.1:p.Tyr1115=
NM_001193536.2:c.3441C= NP_001180465.1:p.Tyr1147=
NM_203447.4:c.3645C= MANE Select NP_982272.2:p.Tyr1215=