Canonical Allele Identifier: CA2828993

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3476424C>T , CM000666.2:g.3476424C>T	GRCh38
NC_000004.11:g.3478151C>T , CM000666.1:g.3478151C>T	GRCh37
NC_000004.10:g.3447949C>T	NCBI36
NG_013072.2:g.18119C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.414C>T MANE Select	NP_775931.3:p.Leu138=
ENST00000340083.6:c.414C>T MANE Select	ENSP00000344432.5:p.Leu138=
NM_001164673.1:c.414C>T	NP_001158145.1:p.Leu138=
NM_001164673.2:c.414C>T	NP_001158145.1:p.Leu138=
NM_001301071.1:c.414C>T	NP_001288000.1:p.Leu138=
NM_001301071.2:c.414C>T	NP_001288000.1:p.Leu138=
NM_001363811.1:c.101-9115C>T	NP_001350740.1:n.101-9115C>T
NM_001363811.2:c.101-9115C>T	NP_001350740.1:n.101-9115C>T
NM_173660.4:c.414C>T	NP_775931.3:p.Leu138=
ENST00000340083.5:c.414C>T	ENSP00000344432.5:p.Leu138=
ENST00000503688.5:n.166-9115C>T
ENST00000507039.5:c.414C>T	ENSP00000423614.1:p.Leu138=
ENST00000511267.5:n.433C>T
ENST00000643608.1:c.101-9115C>T	ENSP00000495701.1:n.101-9115C>T
XM_011513435.1:c.414C>T	XP_011511737.1:p.Leu138=
XM_011513435.2:c.414C>T	XP_011511737.1:p.Leu138=
XM_011513436.1:c.414C>T	XP_011511738.1:p.Leu138=
XM_011513437.1:c.11C>T	XP_011511739.1:p.Ser4Leu
XM_011513437.2:c.11C>T	XP_011511739.1:p.Ser4Leu