Canonical Allele Identifier: CA372768109
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5008C>A ENSP00000371766.2:p.Leu1670Ile
ENST00000683406.1:n.1783C>A
ENST00000684637.1:n.989C>A
ENST00000685949.1:n.4096C>A
ENST00000432829.7:c.5308C>A MANE Select ENSP00000394888.3:p.Leu1770Ile
ENST00000382329.1:c.3709C>A ENSP00000371766.1:p.Leu1237Ile
ENST00000432829.6:c.5308C>A ENSP00000394888.3:p.Leu1770Ile
ENST00000453981.5:c.5104C>A ENSP00000408464.2:p.Leu1702Ile
ENST00000469391.5:c.5008C>A ENSP00000419438.1:p.Leu1670Ile
ENST00000495184.5:n.7263C>A
NM_001190458.1:c.5008C>A NP_001177387.1:p.Leu1670Ile
NM_001193536.1:c.5104C>A NP_001180465.1:p.Leu1702Ile
NM_203447.3:c.5308C>A , LRG_196t1:c.5308C>A NP_982272.2:p.Leu1770Ile
XM_011518045.1:c.5008C>A XP_011516347.1:p.Leu1670Ile
XM_011518046.1:c.5170C>A XP_011516348.1:p.Leu1724Ile
XM_011518047.1:c.5104C>A XP_011516349.1:p.Leu1702Ile
XM_011518048.1:c.5104C>A XP_011516350.1:p.Leu1702Ile
XM_011518049.1:c.3544C>A XP_011516351.1:p.Leu1182Ile
XM_011518045.3:c.5008C>A XP_011516347.1:p.Leu1670Ile
XM_011518046.2:c.5170C>A XP_011516348.1:p.Leu1724Ile
XM_011518047.3:c.5104C>A XP_011516349.1:p.Leu1702Ile
XM_011518048.2:c.5104C>A XP_011516350.1:p.Leu1702Ile
XM_011518049.2:c.3544C>A XP_011516351.1:p.Leu1182Ile
XM_017015173.1:c.5104C>A XP_016870662.1:p.Leu1702Ile
XM_017015174.1:c.5170C>A XP_016870663.1:p.Leu1724Ile
NM_001190458.2:c.5008C>A NP_001177387.1:p.Leu1670Ile
NM_001193536.2:c.5104C>A NP_001180465.1:p.Leu1702Ile
NM_203447.4:c.5308C>A MANE Select NP_982272.2:p.Leu1770Ile