Canonical Allele Identifier: CA4959180

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.432263G>A , CM000671.2:g.432263G>A	GRCh38
NC_000009.11:g.432263G>A , CM000671.1:g.432263G>A	GRCh37
NC_000009.10:g.422263G>A	NCBI36
NG_017007.1:g.222399G>A , LRG_196:g.222399G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.4724G>A MANE Select	NP_982272.2:p.Arg1575Lys
ENST00000432829.7:c.4724G>A MANE Select	ENSP00000394888.3:p.Arg1575Lys
NM_001190458.1:c.4424G>A	NP_001177387.1:p.Arg1475Lys
NM_001190458.2:c.4424G>A	NP_001177387.1:p.Arg1475Lys
NM_001193536.1:c.4520G>A	NP_001180465.1:p.Arg1507Lys
NM_001193536.2:c.4520G>A	NP_001180465.1:p.Arg1507Lys
NM_203447.3:c.4724G>A , LRG_196t1:c.4724G>A	NP_982272.2:p.Arg1575Lys
ENST00000382329.1:c.3125G>A	ENSP00000371766.1:p.Arg1042Lys
ENST00000382329.2:c.4424G>A	ENSP00000371766.2:p.Arg1475Lys
ENST00000432829.6:c.4724G>A	ENSP00000394888.3:p.Arg1575Lys
ENST00000453981.5:c.4520G>A	ENSP00000408464.2:p.Arg1507Lys
ENST00000469391.5:c.4424G>A	ENSP00000419438.1:p.Arg1475Lys
ENST00000495184.5:n.6679G>A
ENST00000683406.1:n.1245G>A
ENST00000685949.1:n.3512G>A
XM_011518045.1:c.4424G>A	XP_011516347.1:p.Arg1475Lys
XM_011518045.3:c.4424G>A	XP_011516347.1:p.Arg1475Lys
XM_011518046.1:c.4586G>A	XP_011516348.1:p.Arg1529Lys
XM_011518046.2:c.4586G>A	XP_011516348.1:p.Arg1529Lys
XM_011518047.1:c.4520G>A	XP_011516349.1:p.Arg1507Lys
XM_011518047.3:c.4520G>A	XP_011516349.1:p.Arg1507Lys
XM_011518048.1:c.4520G>A	XP_011516350.1:p.Arg1507Lys
XM_011518048.2:c.4520G>A	XP_011516350.1:p.Arg1507Lys
XM_011518049.1:c.2960G>A	XP_011516351.1:p.Arg987Lys
XM_011518049.2:c.2960G>A	XP_011516351.1:p.Arg987Lys
XM_017015173.1:c.4520G>A	XP_016870662.1:p.Arg1507Lys
XM_017015174.1:c.4586G>A	XP_016870663.1:p.Arg1529Lys