Canonical Allele Identifier: CA2829304

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3492943C>G , CM000666.2:g.3492943C>G	GRCh38
NC_000004.11:g.3494670C>G , CM000666.1:g.3494670C>G	GRCh37
NC_000004.10:g.3464468C>G	NCBI36
NG_013072.2:g.34638C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.957C>G MANE Select	NP_775931.3:p.Pro319=
ENST00000340083.6:c.957C>G MANE Select	ENSP00000344432.5:p.Pro319=
NM_001164673.1:c.*178C>G	NP_001158145.1:n.*178C>G
NM_001164673.2:c.*178C>G	NP_001158145.1:n.*178C>G
NM_001256896.1:c.27C>G	NP_001243825.1:p.Pro9=
NM_001256896.2:c.27C>G	NP_001243825.1:p.Pro9=
NM_001301071.1:c.957C>G	NP_001288000.1:p.Pro319=
NM_001301071.2:c.957C>G	NP_001288000.1:p.Pro319=
NM_001363811.1:c.525C>G	NP_001350740.1:p.Pro175=
NM_001363811.2:c.525C>G	NP_001350740.1:p.Pro175=
NM_173660.4:c.957C>G	NP_775931.3:p.Pro319=
ENST00000340083.5:c.957C>G	ENSP00000344432.5:p.Pro319=
ENST00000507039.5:c.*178C>G	ENSP00000423614.1:n.*178C>G
ENST00000512714.1:n.149C>G
ENST00000515886.5:n.725C>G
ENST00000643608.1:c.525C>G	ENSP00000495701.1:p.Pro175=
XM_011513435.1:c.957C>G	XP_011511737.1:p.Pro319=
XM_011513435.2:c.957C>G	XP_011511737.1:p.Pro319=
XM_011513436.1:c.957C>G	XP_011511738.1:p.Pro319=
XM_011513437.1:c.543C>G	XP_011511739.1:p.Pro181=
XM_011513437.2:c.543C>G	XP_011511739.1:p.Pro181=