Canonical Allele Identifier: CA372768108
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.441368C>A , CM000671.2:g.441368C>A GRCh38
NC_000009.11:g.441368C>A , CM000671.1:g.441368C>A GRCh37
NC_000009.10:g.431368C>A NCBI36
NG_017007.1:g.231504C>A , LRG_196:g.231504C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.5006C>A ENSP00000371766.2:p.Thr1669Lys
ENST00000683406.1:n.1781C>A
ENST00000684637.1:n.987C>A
ENST00000685949.1:n.4094C>A
ENST00000432829.7:c.5306C>A MANE Select ENSP00000394888.3:p.Thr1769Lys
ENST00000382329.1:c.3707C>A ENSP00000371766.1:p.Thr1236Lys
ENST00000432829.6:c.5306C>A ENSP00000394888.3:p.Thr1769Lys
ENST00000453981.5:c.5102C>A ENSP00000408464.2:p.Thr1701Lys
ENST00000469391.5:c.5006C>A ENSP00000419438.1:p.Thr1669Lys
ENST00000495184.5:n.7261C>A
NM_001190458.1:c.5006C>A NP_001177387.1:p.Thr1669Lys
NM_001193536.1:c.5102C>A NP_001180465.1:p.Thr1701Lys
NM_203447.3:c.5306C>A , LRG_196t1:c.5306C>A NP_982272.2:p.Thr1769Lys
XM_011518045.1:c.5006C>A XP_011516347.1:p.Thr1669Lys
XM_011518046.1:c.5168C>A XP_011516348.1:p.Thr1723Lys
XM_011518047.1:c.5102C>A XP_011516349.1:p.Thr1701Lys
XM_011518048.1:c.5102C>A XP_011516350.1:p.Thr1701Lys
XM_011518049.1:c.3542C>A XP_011516351.1:p.Thr1181Lys
XM_011518045.3:c.5006C>A XP_011516347.1:p.Thr1669Lys
XM_011518046.2:c.5168C>A XP_011516348.1:p.Thr1723Lys
XM_011518047.3:c.5102C>A XP_011516349.1:p.Thr1701Lys
XM_011518048.2:c.5102C>A XP_011516350.1:p.Thr1701Lys
XM_011518049.2:c.3542C>A XP_011516351.1:p.Thr1181Lys
XM_017015173.1:c.5102C>A XP_016870662.1:p.Thr1701Lys
XM_017015174.1:c.5168C>A XP_016870663.1:p.Thr1723Lys
NM_001190458.2:c.5006C>A NP_001177387.1:p.Thr1669Lys
NM_001193536.2:c.5102C>A NP_001180465.1:p.Thr1701Lys
NM_203447.4:c.5306C>A MANE Select NP_982272.2:p.Thr1769Lys