Canonical Allele Identifier: CA356114853

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3485537A>G , CM000666.2:g.3485537A>G	GRCh38
NC_000004.11:g.3487264A>G , CM000666.1:g.3487264A>G	GRCh37
NC_000004.10:g.3457062A>G	NCBI36
NG_013072.2:g.27232A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.533-2A>G MANE Select	NP_775931.3:n.533-2A>G
ENST00000340083.6:c.533-2A>G MANE Select	ENSP00000344432.5:n.533-2A>G
NM_001164673.1:c.522-2A>G	NP_001158145.1:n.522-2A>G
NM_001164673.2:c.522-2A>G	NP_001158145.1:n.522-2A>G
NM_001256896.1:c.-398-2A>G	NP_001243825.1:n.-398-2A>G
NM_001256896.2:c.-398-2A>G	NP_001243825.1:n.-398-2A>G
NM_001301071.1:c.533-2A>G	NP_001288000.1:n.533-2A>G
NM_001301071.2:c.533-2A>G	NP_001288000.1:n.533-2A>G
NM_001363811.1:c.101-2A>G	NP_001350740.1:n.101-2A>G
NM_001363811.2:c.101-2A>G	NP_001350740.1:n.101-2A>G
NM_173660.4:c.533-2A>G	NP_775931.3:n.533-2A>G
ENST00000340083.5:c.533-2A>G	ENSP00000344432.5:n.533-2A>G
ENST00000503688.5:n.166-2A>G
ENST00000507039.5:c.522-2A>G	ENSP00000423614.1:n.522-2A>G
ENST00000513995.1:n.189A>G
ENST00000515886.5:n.301-2A>G
ENST00000643608.1:c.101-2A>G	ENSP00000495701.1:n.101-2A>G
XM_011513435.1:c.533-2A>G	XP_011511737.1:n.533-2A>G
XM_011513435.2:c.533-2A>G	XP_011511737.1:n.533-2A>G
XM_011513436.1:c.533-2A>G	XP_011511738.1:n.533-2A>G
XM_011513437.1:c.119-2A>G	XP_011511739.1:n.119-2A>G
XM_011513437.2:c.119-2A>G	XP_011511739.1:n.119-2A>G