Canonical Allele Identifier: CA4957812

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.340298A>G , CM000671.2:g.340298A>G	GRCh38
NC_000009.11:g.340298A>G , CM000671.1:g.340298A>G	GRCh37
NC_000009.10:g.330298A>G	NCBI36
NG_017007.1:g.130434A>G , LRG_196:g.130434A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.1656A>G MANE Select	NP_982272.2:p.Val552=
ENST00000432829.7:c.1656A>G MANE Select	ENSP00000394888.3:p.Val552=
NM_001190458.1:c.1452A>G	NP_001177387.1:p.Val484=
NM_001190458.2:c.1452A>G	NP_001177387.1:p.Val484=
NM_001193536.1:c.1452A>G	NP_001180465.1:p.Val484=
NM_001193536.2:c.1452A>G	NP_001180465.1:p.Val484=
NM_203447.3:c.1656A>G , LRG_196t1:c.1656A>G	NP_982272.2:p.Val552=
ENST00000382329.2:c.1452A>G	ENSP00000371766.2:p.Val484=
ENST00000382341.5:n.1551A>G
ENST00000432829.6:c.1656A>G	ENSP00000394888.3:p.Val552=
ENST00000453981.5:c.1452A>G	ENSP00000408464.2:p.Val484=
ENST00000454469.6:n.1765A>G
ENST00000469391.5:c.1452A>G	ENSP00000419438.1:p.Val484=
ENST00000483757.5:c.1452A>G	ENSP00000417691.1:p.Val484=
ENST00000483757.6:c.1452A>G	ENSP00000417691.2:p.Val484=
ENST00000495184.5:n.1517A>G
ENST00000524396.5:c.*1619A>G	ENSP00000436628.1:n.*1619A>G
XM_011518045.1:c.1452A>G	XP_011516347.1:p.Val484=
XM_011518045.3:c.1452A>G	XP_011516347.1:p.Val484=
XM_011518046.1:c.1518A>G	XP_011516348.1:p.Val506=
XM_011518046.2:c.1518A>G	XP_011516348.1:p.Val506=
XM_011518047.1:c.1452A>G	XP_011516349.1:p.Val484=
XM_011518047.3:c.1452A>G	XP_011516349.1:p.Val484=
XM_011518048.1:c.1452A>G	XP_011516350.1:p.Val484=
XM_011518048.2:c.1452A>G	XP_011516350.1:p.Val484=
XM_017015173.1:c.1452A>G	XP_016870662.1:p.Val484=
XM_017015174.1:c.1518A>G	XP_016870663.1:p.Val506=