Canonical Allele Identifier: CA4959568

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.449794C>T , CM000671.2:g.449794C>T	GRCh38
NC_000009.11:g.449794C>T , CM000671.1:g.449794C>T	GRCh37
NC_000009.10:g.439794C>T	NCBI36
NG_017007.1:g.239930C>T , LRG_196:g.239930C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.5828C>T MANE Select	NP_982272.2:p.Thr1943Ile
ENST00000432829.7:c.5828C>T MANE Select	ENSP00000394888.3:p.Thr1943Ile
NM_001190458.1:c.5528C>T	NP_001177387.1:p.Thr1843Ile
NM_001190458.2:c.5528C>T	NP_001177387.1:p.Thr1843Ile
NM_001193536.1:c.5624C>T	NP_001180465.1:p.Thr1875Ile
NM_001193536.2:c.5624C>T	NP_001180465.1:p.Thr1875Ile
NM_203447.3:c.5828C>T , LRG_196t1:c.5828C>T	NP_982272.2:p.Thr1943Ile
ENST00000382329.1:c.4229C>T	ENSP00000371766.1:p.Thr1410Ile
ENST00000382329.2:c.5528C>T	ENSP00000371766.2:p.Thr1843Ile
ENST00000432829.6:c.5828C>T	ENSP00000394888.3:p.Thr1943Ile
ENST00000453981.5:c.5624C>T	ENSP00000408464.2:p.Thr1875Ile
ENST00000469391.5:c.5528C>T	ENSP00000419438.1:p.Thr1843Ile
ENST00000495184.5:n.7783C>T
ENST00000683406.1:n.2303C>T
ENST00000684637.1:n.1509C>T
ENST00000685949.1:n.4616C>T
XM_011518045.1:c.5528C>T	XP_011516347.1:p.Thr1843Ile
XM_011518045.3:c.5528C>T	XP_011516347.1:p.Thr1843Ile
XM_011518046.1:c.5690C>T	XP_011516348.1:p.Thr1897Ile
XM_011518046.2:c.5690C>T	XP_011516348.1:p.Thr1897Ile
XM_011518047.1:c.5624C>T	XP_011516349.1:p.Thr1875Ile
XM_011518047.3:c.5624C>T	XP_011516349.1:p.Thr1875Ile
XM_011518048.1:c.5624C>T	XP_011516350.1:p.Thr1875Ile
XM_011518048.2:c.5624C>T	XP_011516350.1:p.Thr1875Ile
XM_011518049.1:c.4064C>T	XP_011516351.1:p.Thr1355Ile
XM_011518049.2:c.4064C>T	XP_011516351.1:p.Thr1355Ile
XM_017015173.1:c.5624C>T	XP_016870662.1:p.Thr1875Ile
XM_017015174.1:c.5690C>T	XP_016870663.1:p.Thr1897Ile