Canonical Allele Identifier: CA4959117

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.429755C>G , CM000671.2:g.429755C>G	GRCh38
NC_000009.11:g.429755C>G , CM000671.1:g.429755C>G	GRCh37
NC_000009.10:g.419755C>G	NCBI36
NG_017007.1:g.219891C>G , LRG_196:g.219891C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.4527C>G MANE Select	NP_982272.2:p.His1509Gln
ENST00000432829.7:c.4527C>G MANE Select	ENSP00000394888.3:p.His1509Gln
NM_001190458.1:c.4227C>G	NP_001177387.1:p.His1409Gln
NM_001190458.2:c.4227C>G	NP_001177387.1:p.His1409Gln
NM_001193536.1:c.4323C>G	NP_001180465.1:p.His1441Gln
NM_001193536.2:c.4323C>G	NP_001180465.1:p.His1441Gln
NM_203447.3:c.4527C>G , LRG_196t1:c.4527C>G	NP_982272.2:p.His1509Gln
ENST00000382329.1:c.2928C>G	ENSP00000371766.1:p.His976Gln
ENST00000382329.2:c.4227C>G	ENSP00000371766.2:p.His1409Gln
ENST00000432829.6:c.4527C>G	ENSP00000394888.3:p.His1509Gln
ENST00000453981.5:c.4323C>G	ENSP00000408464.2:p.His1441Gln
ENST00000469391.5:c.4227C>G	ENSP00000419438.1:p.His1409Gln
ENST00000495184.5:n.6482C>G
ENST00000683406.1:n.1048C>G
ENST00000685949.1:n.3315C>G
XM_011518045.1:c.4227C>G	XP_011516347.1:p.His1409Gln
XM_011518045.3:c.4227C>G	XP_011516347.1:p.His1409Gln
XM_011518046.1:c.4389C>G	XP_011516348.1:p.His1463Gln
XM_011518046.2:c.4389C>G	XP_011516348.1:p.His1463Gln
XM_011518047.1:c.4323C>G	XP_011516349.1:p.His1441Gln
XM_011518047.3:c.4323C>G	XP_011516349.1:p.His1441Gln
XM_011518048.1:c.4323C>G	XP_011516350.1:p.His1441Gln
XM_011518048.2:c.4323C>G	XP_011516350.1:p.His1441Gln
XM_011518049.1:c.2763C>G	XP_011516351.1:p.His921Gln
XM_011518049.2:c.2763C>G	XP_011516351.1:p.His921Gln
XM_017015173.1:c.4323C>G	XP_016870662.1:p.His1441Gln
XM_017015174.1:c.4389C>G	XP_016870663.1:p.His1463Gln