Canonical Allele Identifier: CA372768104
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.441367A>G , CM000671.2:g.441367A>G GRCh38
NC_000009.11:g.441367A>G , CM000671.1:g.441367A>G GRCh37
NC_000009.10:g.431367A>G NCBI36
NG_017007.1:g.231503A>G , LRG_196:g.231503A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.5005A>G ENSP00000371766.2:p.Thr1669Ala
ENST00000683406.1:n.1780A>G
ENST00000684637.1:n.986A>G
ENST00000685949.1:n.4093A>G
ENST00000432829.7:c.5305A>G MANE Select ENSP00000394888.3:p.Thr1769Ala
ENST00000382329.1:c.3706A>G ENSP00000371766.1:p.Thr1236Ala
ENST00000432829.6:c.5305A>G ENSP00000394888.3:p.Thr1769Ala
ENST00000453981.5:c.5101A>G ENSP00000408464.2:p.Thr1701Ala
ENST00000469391.5:c.5005A>G ENSP00000419438.1:p.Thr1669Ala
ENST00000495184.5:n.7260A>G
NM_001190458.1:c.5005A>G NP_001177387.1:p.Thr1669Ala
NM_001193536.1:c.5101A>G NP_001180465.1:p.Thr1701Ala
NM_203447.3:c.5305A>G , LRG_196t1:c.5305A>G NP_982272.2:p.Thr1769Ala
XM_011518045.1:c.5005A>G XP_011516347.1:p.Thr1669Ala
XM_011518046.1:c.5167A>G XP_011516348.1:p.Thr1723Ala
XM_011518047.1:c.5101A>G XP_011516349.1:p.Thr1701Ala
XM_011518048.1:c.5101A>G XP_011516350.1:p.Thr1701Ala
XM_011518049.1:c.3541A>G XP_011516351.1:p.Thr1181Ala
XM_011518045.3:c.5005A>G XP_011516347.1:p.Thr1669Ala
XM_011518046.2:c.5167A>G XP_011516348.1:p.Thr1723Ala
XM_011518047.3:c.5101A>G XP_011516349.1:p.Thr1701Ala
XM_011518048.2:c.5101A>G XP_011516350.1:p.Thr1701Ala
XM_011518049.2:c.3541A>G XP_011516351.1:p.Thr1181Ala
XM_017015173.1:c.5101A>G XP_016870662.1:p.Thr1701Ala
XM_017015174.1:c.5167A>G XP_016870663.1:p.Thr1723Ala
NM_001190458.2:c.5005A>G NP_001177387.1:p.Thr1669Ala
NM_001193536.2:c.5101A>G NP_001180465.1:p.Thr1701Ala
NM_203447.4:c.5305A>G MANE Select NP_982272.2:p.Thr1769Ala