Canonical Allele Identifier: CA356114414

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3476490C>A , CM000666.2:g.3476490C>A	GRCh38
NC_000004.11:g.3478217C>A , CM000666.1:g.3478217C>A	GRCh37
NC_000004.10:g.3448015C>A	NCBI36
NG_013072.2:g.18185C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.480C>A MANE Select	NP_775931.3:p.Tyr160Ter
ENST00000340083.6:c.480C>A MANE Select	ENSP00000344432.5:p.Tyr160Ter
NM_001164673.1:c.480C>A	NP_001158145.1:p.Tyr160Ter
NM_001164673.2:c.480C>A	NP_001158145.1:p.Tyr160Ter
NM_001301071.1:c.480C>A	NP_001288000.1:p.Tyr160Ter
NM_001301071.2:c.480C>A	NP_001288000.1:p.Tyr160Ter
NM_001363811.1:c.101-9049C>A	NP_001350740.1:n.101-9049C>A
NM_001363811.2:c.101-9049C>A	NP_001350740.1:n.101-9049C>A
NM_173660.4:c.480C>A	NP_775931.3:p.Tyr160Ter
ENST00000340083.5:c.480C>A	ENSP00000344432.5:p.Tyr160Ter
ENST00000503688.5:n.166-9049C>A
ENST00000507039.5:c.480C>A	ENSP00000423614.1:p.Tyr160Ter
ENST00000511267.5:n.499C>A
ENST00000643608.1:c.101-9049C>A	ENSP00000495701.1:n.101-9049C>A
XM_011513435.1:c.480C>A	XP_011511737.1:p.Tyr160Ter
XM_011513435.2:c.480C>A	XP_011511737.1:p.Tyr160Ter
XM_011513436.1:c.480C>A	XP_011511738.1:p.Tyr160Ter
XM_011513437.1:c.77C>A	XP_011511739.1:p.Thr26Lys
XM_011513437.2:c.77C>A	XP_011511739.1:p.Thr26Lys