Canonical Allele Identifier: CA372760518
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.414848C>G , CM000671.2:g.414848C>G GRCh38
NC_000009.11:g.414848C>G , CM000671.1:g.414848C>G GRCh37
NC_000009.10:g.404848C>G NCBI36
NG_017007.1:g.204984C>G , LRG_196:g.204984C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.3297C>G ENSP00000371766.2:p.Asp1099Glu
ENST00000683406.1:n.118C>G
ENST00000685949.1:n.2385C>G
ENST00000432829.7:c.3597C>G MANE Select ENSP00000394888.3:p.Asp1199Glu
ENST00000382329.1:c.1998C>G ENSP00000371766.1:p.Asp666Glu
ENST00000432829.6:c.3597C>G ENSP00000394888.3:p.Asp1199Glu
ENST00000453981.5:c.3393C>G ENSP00000408464.2:p.Asp1131Glu
ENST00000469391.5:c.3297C>G ENSP00000419438.1:p.Asp1099Glu
ENST00000495184.5:n.5552C>G
NM_001190458.1:c.3297C>G NP_001177387.1:p.Asp1099Glu
NM_001193536.1:c.3393C>G NP_001180465.1:p.Asp1131Glu
NM_203447.3:c.3597C>G , LRG_196t1:c.3597C>G NP_982272.2:p.Asp1199Glu
XM_011518045.1:c.3297C>G XP_011516347.1:p.Asp1099Glu
XM_011518046.1:c.3459C>G XP_011516348.1:p.Asp1153Glu
XM_011518047.1:c.3393C>G XP_011516349.1:p.Asp1131Glu
XM_011518048.1:c.3393C>G XP_011516350.1:p.Asp1131Glu
XM_011518049.1:c.1833C>G XP_011516351.1:p.Asp611Glu
XM_011518045.3:c.3297C>G XP_011516347.1:p.Asp1099Glu
XM_011518046.2:c.3459C>G XP_011516348.1:p.Asp1153Glu
XM_011518047.3:c.3393C>G XP_011516349.1:p.Asp1131Glu
XM_011518048.2:c.3393C>G XP_011516350.1:p.Asp1131Glu
XM_011518049.2:c.1833C>G XP_011516351.1:p.Asp611Glu
XM_017015173.1:c.3393C>G XP_016870662.1:p.Asp1131Glu
XM_017015174.1:c.3459C>G XP_016870663.1:p.Asp1153Glu
NM_001190458.2:c.3297C>G NP_001177387.1:p.Asp1099Glu
NM_001193536.2:c.3393C>G NP_001180465.1:p.Asp1131Glu
NM_203447.4:c.3597C>G MANE Select NP_982272.2:p.Asp1199Glu