Canonical Allele Identifier: CA4958350

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.386331A>G , CM000671.2:g.386331A>G	GRCh38
NC_000009.11:g.386331A>G , CM000671.1:g.386331A>G	GRCh37
NC_000009.10:g.376331A>G	NCBI36
NG_017007.1:g.176467A>G , LRG_196:g.176467A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2574+3646A>G	ENSP00000371766.2:n.2574+3646A>G
ENST00000382331.6:n.1276A>G
ENST00000682260.1:n.2675A>G
ENST00000685949.1:n.1567A>G
ENST00000432829.7:c.2779A>G MANE Select	ENSP00000394888.3:p.Ile927Val
ENST00000382329.1:c.1180A>G	ENSP00000371766.1:p.Ile394Val
ENST00000382331.5:c.685A>G	ENSP00000371768.1:p.Ile229Val
ENST00000432829.6:c.2779A>G	ENSP00000394888.3:p.Ile927Val
ENST00000453981.5:c.2575A>G	ENSP00000408464.2:p.Ile859Val
ENST00000469391.5:c.2574+3646A>G	ENSP00000419438.1:n.2574+3646A>G
ENST00000495184.5:n.4734A>G
NM_001190458.1:c.2574+3646A>G	NP_001177387.1:n.2574+3646A>G
NM_001193536.1:c.2575A>G	NP_001180465.1:p.Ile859Val
NM_203447.3:c.2779A>G , LRG_196t1:c.2779A>G	NP_982272.2:p.Ile927Val
XM_011518045.1:c.2574+3646A>G	XP_011516347.1:n.2574+3646A>G
XM_011518046.1:c.2641A>G	XP_011516348.1:p.Ile881Val
XM_011518047.1:c.2575A>G	XP_011516349.1:p.Ile859Val
XM_011518048.1:c.2575A>G	XP_011516350.1:p.Ile859Val
XM_011518049.1:c.1015A>G	XP_011516351.1:p.Ile339Val
XM_011518045.3:c.2574+3646A>G	XP_011516347.1:n.2574+3646A>G
XM_011518046.2:c.2641A>G	XP_011516348.1:p.Ile881Val
XM_011518047.3:c.2575A>G	XP_011516349.1:p.Ile859Val
XM_011518048.2:c.2575A>G	XP_011516350.1:p.Ile859Val
XM_011518049.2:c.1015A>G	XP_011516351.1:p.Ile339Val
XM_017015173.1:c.2575A>G	XP_016870662.1:p.Ile859Val
XM_017015174.1:c.2641A>G	XP_016870663.1:p.Ile881Val
NM_001190458.2:c.2574+3646A>G	NP_001177387.1:n.2574+3646A>G
NM_001193536.2:c.2575A>G	NP_001180465.1:p.Ile859Val
NM_203447.4:c.2779A>G MANE Select	NP_982272.2:p.Ile927Val