Canonical Allele Identifier: CA372768110
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.441370C>T , CM000671.2:g.441370C>T GRCh38
NC_000009.11:g.441370C>T , CM000671.1:g.441370C>T GRCh37
NC_000009.10:g.431370C>T NCBI36
NG_017007.1:g.231506C>T , LRG_196:g.231506C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.5008C>T ENSP00000371766.2:p.Leu1670Phe
ENST00000683406.1:n.1783C>T
ENST00000684637.1:n.989C>T
ENST00000685949.1:n.4096C>T
ENST00000432829.7:c.5308C>T MANE Select ENSP00000394888.3:p.Leu1770Phe
ENST00000382329.1:c.3709C>T ENSP00000371766.1:p.Leu1237Phe
ENST00000432829.6:c.5308C>T ENSP00000394888.3:p.Leu1770Phe
ENST00000453981.5:c.5104C>T ENSP00000408464.2:p.Leu1702Phe
ENST00000469391.5:c.5008C>T ENSP00000419438.1:p.Leu1670Phe
ENST00000495184.5:n.7263C>T
NM_001190458.1:c.5008C>T NP_001177387.1:p.Leu1670Phe
NM_001193536.1:c.5104C>T NP_001180465.1:p.Leu1702Phe
NM_203447.3:c.5308C>T , LRG_196t1:c.5308C>T NP_982272.2:p.Leu1770Phe
XM_011518045.1:c.5008C>T XP_011516347.1:p.Leu1670Phe
XM_011518046.1:c.5170C>T XP_011516348.1:p.Leu1724Phe
XM_011518047.1:c.5104C>T XP_011516349.1:p.Leu1702Phe
XM_011518048.1:c.5104C>T XP_011516350.1:p.Leu1702Phe
XM_011518049.1:c.3544C>T XP_011516351.1:p.Leu1182Phe
XM_011518045.3:c.5008C>T XP_011516347.1:p.Leu1670Phe
XM_011518046.2:c.5170C>T XP_011516348.1:p.Leu1724Phe
XM_011518047.3:c.5104C>T XP_011516349.1:p.Leu1702Phe
XM_011518048.2:c.5104C>T XP_011516350.1:p.Leu1702Phe
XM_011518049.2:c.3544C>T XP_011516351.1:p.Leu1182Phe
XM_017015173.1:c.5104C>T XP_016870662.1:p.Leu1702Phe
XM_017015174.1:c.5170C>T XP_016870663.1:p.Leu1724Phe
NM_001190458.2:c.5008C>T NP_001177387.1:p.Leu1670Phe
NM_001193536.2:c.5104C>T NP_001180465.1:p.Leu1702Phe
NM_203447.4:c.5308C>T MANE Select NP_982272.2:p.Leu1770Phe