Canonical Allele Identifier: CA2829332

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3493015C>T , CM000666.2:g.3493015C>T	GRCh38
NC_000004.11:g.3494742C>T , CM000666.1:g.3494742C>T	GRCh37
NC_000004.10:g.3464540C>T	NCBI36
NG_013072.2:g.34710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340083.6:c.1029C>T MANE Select	ENSP00000344432.5:p.Gly343=
ENST00000643608.1:c.597C>T	ENSP00000495701.1:p.Gly199=
ENST00000340083.5:c.1029C>T	ENSP00000344432.5:p.Gly343=
ENST00000507039.5:c.*250C>T	ENSP00000423614.1:n.*250C>T
ENST00000512714.1:n.221C>T
ENST00000515886.5:n.797C>T
NM_001164673.1:c.*250C>T	NP_001158145.1:n.*250C>T
NM_001256896.1:c.99C>T	NP_001243825.1:p.Gly33=
NM_001301071.1:c.1029C>T	NP_001288000.1:p.Gly343=
NM_173660.4:c.1029C>T	NP_775931.3:p.Gly343=
XM_011513435.1:c.1029C>T	XP_011511737.1:p.Gly343=
XM_011513436.1:c.1029C>T	XP_011511738.1:p.Gly343=
XM_011513437.1:c.615C>T	XP_011511739.1:p.Gly205=
NM_001363811.1:c.597C>T	NP_001350740.1:p.Gly199=
XM_011513435.2:c.1029C>T	XP_011511737.1:p.Gly343=
XM_011513437.2:c.615C>T	XP_011511739.1:p.Gly205=
NM_173660.5:c.1029C>T MANE Select	NP_775931.3:p.Gly343=
NM_001164673.2:c.*250C>T	NP_001158145.1:n.*250C>T
NM_001301071.2:c.1029C>T	NP_001288000.1:p.Gly343=
NM_001363811.2:c.597C>T	NP_001350740.1:p.Gly199=
NM_001256896.2:c.99C>T	NP_001243825.1:p.Gly33=