Canonical Allele Identifier: CA247390

Gene: DOK7

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3493291C>A , CM000666.2:g.3493291C>A	GRCh38
NC_000004.11:g.3495018C>A , CM000666.1:g.3495018C>A	GRCh37
NC_000004.10:g.3464816C>A	NCBI36
NG_013072.2:g.34986C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340083.6:c.1305C>A MANE Select	ENSP00000344432.5:p.Gly435=
ENST00000643608.1:c.873C>A	ENSP00000495701.1:p.Gly291=
ENST00000340083.5:c.1305C>A	ENSP00000344432.5:p.Gly435=
ENST00000507039.5:c.*526C>A	ENSP00000423614.1:n.*526C>A
ENST00000512714.1:n.497C>A
ENST00000515886.5:n.1073C>A
NM_001164673.1:c.*526C>A	NP_001158145.1:n.*526C>A
NM_001256896.1:c.375C>A	NP_001243825.1:p.Gly125=
NM_001301071.1:c.1305C>A	NP_001288000.1:p.Gly435=
NM_173660.4:c.1305C>A	NP_775931.3:p.Gly435=
XM_011513435.1:c.1305C>A	XP_011511737.1:p.Gly435=
XM_011513436.1:c.1305C>A	XP_011511738.1:p.Gly435=
XM_011513437.1:c.891C>A	XP_011511739.1:p.Gly297=
NM_001363811.1:c.873C>A	NP_001350740.1:p.Gly291=
XM_011513435.2:c.1305C>A	XP_011511737.1:p.Gly435=
XM_011513437.2:c.891C>A	XP_011511739.1:p.Gly297=
NM_173660.5:c.1305C>A MANE Select	NP_775931.3:p.Gly435=
NM_001164673.2:c.*526C>A	NP_001158145.1:n.*526C>A
NM_001301071.2:c.1305C>A	NP_001288000.1:p.Gly435=
NM_001363811.2:c.873C>A	NP_001350740.1:p.Gly291=
NM_001256896.2:c.375C>A	NP_001243825.1:p.Gly125=