Canonical Allele Identifier: CA2829279

Gene: DOK7

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3492890G>C , CM000666.2:g.3492890G>C	GRCh38
NC_000004.11:g.3494617G>C , CM000666.1:g.3494617G>C	GRCh37
NC_000004.10:g.3464415G>C	NCBI36
NG_013072.2:g.34585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340083.6:c.904G>C MANE Select	ENSP00000344432.5:p.Ala302Pro
ENST00000643608.1:c.472G>C	ENSP00000495701.1:p.Ala158Pro
ENST00000340083.5:c.904G>C	ENSP00000344432.5:p.Ala302Pro
ENST00000507039.5:c.*125G>C	ENSP00000423614.1:n.*125G>C
ENST00000512714.1:n.96G>C
ENST00000515886.5:n.672G>C
NM_001164673.1:c.*125G>C	NP_001158145.1:n.*125G>C
NM_001256896.1:c.-27G>C	NP_001243825.1:n.-27G>C
NM_001301071.1:c.904G>C	NP_001288000.1:p.Ala302Pro
NM_173660.4:c.904G>C	NP_775931.3:p.Ala302Pro
XM_011513435.1:c.904G>C	XP_011511737.1:p.Ala302Pro
XM_011513436.1:c.904G>C	XP_011511738.1:p.Ala302Pro
XM_011513437.1:c.490G>C	XP_011511739.1:p.Ala164Pro
NM_001363811.1:c.472G>C	NP_001350740.1:p.Ala158Pro
XM_011513435.2:c.904G>C	XP_011511737.1:p.Ala302Pro
XM_011513437.2:c.490G>C	XP_011511739.1:p.Ala164Pro
NM_173660.5:c.904G>C MANE Select	NP_775931.3:p.Ala302Pro
NM_001164673.2:c.*125G>C	NP_001158145.1:n.*125G>C
NM_001301071.2:c.904G>C	NP_001288000.1:p.Ala302Pro
NM_001363811.2:c.472G>C	NP_001350740.1:p.Ala158Pro
NM_001256896.2:c.-27G>C	NP_001243825.1:n.-27G>C