Canonical Allele Identifier: CA356115367

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3489700A>G , CM000666.2:g.3489700A>G	GRCh38
NC_000004.11:g.3491427A>G , CM000666.1:g.3491427A>G	GRCh37
NC_000004.10:g.3461225A>G	NCBI36
NG_013072.2:g.31395A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.676A>G MANE Select	NP_775931.3:p.Thr226Ala
ENST00000340083.6:c.676A>G MANE Select	ENSP00000344432.5:p.Thr226Ala
NM_001164673.1:c.665A>G	NP_001158145.1:p.Asp222Gly
NM_001164673.2:c.665A>G	NP_001158145.1:p.Asp222Gly
NM_001256896.1:c.-255A>G	NP_001243825.1:n.-255A>G
NM_001256896.2:c.-255A>G	NP_001243825.1:n.-255A>G
NM_001301071.1:c.676A>G	NP_001288000.1:p.Thr226Ala
NM_001301071.2:c.676A>G	NP_001288000.1:p.Thr226Ala
NM_001363811.1:c.244A>G	NP_001350740.1:p.Thr82Ala
NM_001363811.2:c.244A>G	NP_001350740.1:p.Thr82Ala
NM_173660.4:c.676A>G	NP_775931.3:p.Thr226Ala
ENST00000340083.5:c.676A>G	ENSP00000344432.5:p.Thr226Ala
ENST00000503688.5:n.309A>G
ENST00000507039.5:c.665A>G	ENSP00000423614.1:p.Asp222Gly
ENST00000513995.1:n.334A>G
ENST00000515886.5:n.444A>G
ENST00000643608.1:c.244A>G	ENSP00000495701.1:p.Thr82Ala
XM_011513435.1:c.676A>G	XP_011511737.1:p.Thr226Ala
XM_011513435.2:c.676A>G	XP_011511737.1:p.Thr226Ala
XM_011513436.1:c.676A>G	XP_011511738.1:p.Thr226Ala
XM_011513437.1:c.262A>G	XP_011511739.1:p.Thr88Ala
XM_011513437.2:c.262A>G	XP_011511739.1:p.Thr88Ala