Canonical Allele Identifier: CA4959228

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.433939A>G , CM000671.2:g.433939A>G	GRCh38
NC_000009.11:g.433939A>G , CM000671.1:g.433939A>G	GRCh37
NC_000009.10:g.423939A>G	NCBI36
NG_017007.1:g.224075A>G , LRG_196:g.224075A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.4850A>G MANE Select	NP_982272.2:p.Gln1617Arg
ENST00000432829.7:c.4850A>G MANE Select	ENSP00000394888.3:p.Gln1617Arg
NM_001190458.1:c.4550A>G	NP_001177387.1:p.Gln1517Arg
NM_001190458.2:c.4550A>G	NP_001177387.1:p.Gln1517Arg
NM_001193536.1:c.4646A>G	NP_001180465.1:p.Gln1549Arg
NM_001193536.2:c.4646A>G	NP_001180465.1:p.Gln1549Arg
NM_203447.3:c.4850A>G , LRG_196t1:c.4850A>G	NP_982272.2:p.Gln1617Arg
ENST00000382329.1:c.3251A>G	ENSP00000371766.1:p.Gln1084Arg
ENST00000382329.2:c.4550A>G	ENSP00000371766.2:p.Gln1517Arg
ENST00000432829.6:c.4850A>G	ENSP00000394888.3:p.Gln1617Arg
ENST00000453981.5:c.4646A>G	ENSP00000408464.2:p.Gln1549Arg
ENST00000469391.5:c.4550A>G	ENSP00000419438.1:p.Gln1517Arg
ENST00000495184.5:n.6805A>G
ENST00000683406.1:n.1325A>G
ENST00000685949.1:n.3638A>G
XM_011518045.1:c.4550A>G	XP_011516347.1:p.Gln1517Arg
XM_011518045.3:c.4550A>G	XP_011516347.1:p.Gln1517Arg
XM_011518046.1:c.4712A>G	XP_011516348.1:p.Gln1571Arg
XM_011518046.2:c.4712A>G	XP_011516348.1:p.Gln1571Arg
XM_011518047.1:c.4646A>G	XP_011516349.1:p.Gln1549Arg
XM_011518047.3:c.4646A>G	XP_011516349.1:p.Gln1549Arg
XM_011518048.1:c.4646A>G	XP_011516350.1:p.Gln1549Arg
XM_011518048.2:c.4646A>G	XP_011516350.1:p.Gln1549Arg
XM_011518049.1:c.3086A>G	XP_011516351.1:p.Gln1029Arg
XM_011518049.2:c.3086A>G	XP_011516351.1:p.Gln1029Arg
XM_017015173.1:c.4646A>G	XP_016870662.1:p.Gln1549Arg
XM_017015174.1:c.4712A>G	XP_016870663.1:p.Gln1571Arg