Canonical Allele Identifier: CA9207135

Gene: DOCK6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11217056C>T , CM000681.2:g.11217056C>T	GRCh38
NC_000019.9:g.11327732C>T , CM000681.1:g.11327732C>T	GRCh37
NC_000019.8:g.11188732C>T	NCBI36
NG_031953.1:g.50437G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020812.4:c.3752G>A MANE Select	NP_065863.2:p.Arg1251Gln
ENST00000294618.12:c.3752G>A MANE Select	ENSP00000294618.6:p.Arg1251Gln
NM_001367830.1:c.3857G>A	NP_001354759.1:p.Arg1286Gln
NM_020812.3:c.3752G>A	NP_065863.2:p.Arg1251Gln
ENST00000294618.11:c.3752G>A	ENSP00000294618.6:p.Arg1251Gln
ENST00000587656.5:c.1617G>A
ENST00000587656.6:c.3857G>A	ENSP00000468638.2:p.Arg1286Gln
ENST00000588429.1:n.107G>A
ENST00000592403.1:n.79G>A
XM_005260000.2:c.3950G>A	XP_005260057.1:p.Arg1317Gln
XM_005260001.2:c.3857G>A	XP_005260058.1:p.Arg1286Gln
XM_006722804.2:c.1088G>A	XP_006722867.1:p.Arg363Gln
XM_006722804.3:c.1088G>A	XP_006722867.1:p.Arg363Gln
XM_011528150.1:c.3890G>A	XP_011526452.1:p.Arg1297Gln
XM_011528151.1:c.3878G>A	XP_011526453.1:p.Arg1293Gln
XM_011528152.1:c.3785G>A	XP_011526454.1:p.Arg1262Gln
XM_011528153.1:c.3890G>A	XP_011526455.1:p.Arg1297Gln
XR_936195.1:n.3951G>A