Canonical Allele Identifier: CA356115360

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3489698C>A , CM000666.2:g.3489698C>A	GRCh38
NC_000004.11:g.3491425C>A , CM000666.1:g.3491425C>A	GRCh37
NC_000004.10:g.3461223C>A	NCBI36
NG_013072.2:g.31393C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.674C>A MANE Select	NP_775931.3:p.Ser225Ter
ENST00000340083.6:c.674C>A MANE Select	ENSP00000344432.5:p.Ser225Ter
NM_001164673.1:c.663C>A	NP_001158145.1:p.Leu221=
NM_001164673.2:c.663C>A	NP_001158145.1:p.Leu221=
NM_001256896.1:c.-257C>A	NP_001243825.1:n.-257C>A
NM_001256896.2:c.-257C>A	NP_001243825.1:n.-257C>A
NM_001301071.1:c.674C>A	NP_001288000.1:p.Ser225Ter
NM_001301071.2:c.674C>A	NP_001288000.1:p.Ser225Ter
NM_001363811.1:c.242C>A	NP_001350740.1:p.Ser81Ter
NM_001363811.2:c.242C>A	NP_001350740.1:p.Ser81Ter
NM_173660.4:c.674C>A	NP_775931.3:p.Ser225Ter
ENST00000340083.5:c.674C>A	ENSP00000344432.5:p.Ser225Ter
ENST00000503688.5:n.307C>A
ENST00000507039.5:c.663C>A	ENSP00000423614.1:p.Leu221=
ENST00000513995.1:n.332C>A
ENST00000515886.5:n.442C>A
ENST00000643608.1:c.242C>A	ENSP00000495701.1:p.Ser81Ter
XM_011513435.1:c.674C>A	XP_011511737.1:p.Ser225Ter
XM_011513435.2:c.674C>A	XP_011511737.1:p.Ser225Ter
XM_011513436.1:c.674C>A	XP_011511738.1:p.Ser225Ter
XM_011513437.1:c.260C>A	XP_011511739.1:p.Ser87Ter
XM_011513437.2:c.260C>A	XP_011511739.1:p.Ser87Ter