Canonical Allele Identifier: CA372753232
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.336615C>G , CM000671.2:g.336615C>G GRCh38
NC_000009.11:g.336615C>G , CM000671.1:g.336615C>G GRCh37
NC_000009.10:g.326615C>G NCBI36
NG_017007.1:g.126751C>G , LRG_196:g.126751C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.1115C>G ENSP00000371766.2:p.Ala372Gly
ENST00000483757.6:c.1115C>G ENSP00000417691.2:p.Ala372Gly
ENST00000432829.7:c.1319C>G MANE Select ENSP00000394888.3:p.Ala440Gly
ENST00000382341.5:n.1214C>G
ENST00000432829.6:c.1319C>G ENSP00000394888.3:p.Ala440Gly
ENST00000453981.5:c.1115C>G ENSP00000408464.2:p.Ala372Gly
ENST00000454469.6:n.1428C>G
ENST00000469391.5:c.1115C>G ENSP00000419438.1:p.Ala372Gly
ENST00000483757.5:c.1115C>G ENSP00000417691.1:p.Ala372Gly
ENST00000495184.5:n.1180C>G
ENST00000524396.5:c.*1282C>G ENSP00000436628.1:n.*1282C>G
NM_001190458.1:c.1115C>G NP_001177387.1:p.Ala372Gly
NM_001193536.1:c.1115C>G NP_001180465.1:p.Ala372Gly
NM_203447.3:c.1319C>G , LRG_196t1:c.1319C>G NP_982272.2:p.Ala440Gly
XM_011518045.1:c.1115C>G XP_011516347.1:p.Ala372Gly
XM_011518046.1:c.1181C>G XP_011516348.1:p.Ala394Gly
XM_011518047.1:c.1115C>G XP_011516349.1:p.Ala372Gly
XM_011518048.1:c.1115C>G XP_011516350.1:p.Ala372Gly
XM_011518045.3:c.1115C>G XP_011516347.1:p.Ala372Gly
XM_011518046.2:c.1181C>G XP_011516348.1:p.Ala394Gly
XM_011518047.3:c.1115C>G XP_011516349.1:p.Ala372Gly
XM_011518048.2:c.1115C>G XP_011516350.1:p.Ala372Gly
XM_017015173.1:c.1115C>G XP_016870662.1:p.Ala372Gly
XM_017015174.1:c.1181C>G XP_016870663.1:p.Ala394Gly
NM_001190458.2:c.1115C>G NP_001177387.1:p.Ala372Gly
NM_001193536.2:c.1115C>G NP_001180465.1:p.Ala372Gly
NM_203447.4:c.1319C>G MANE Select NP_982272.2:p.Ala440Gly