Canonical Allele Identifier: CA2829142
Gene: DOK7 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3489692G>A , CM000666.2:g.3489692G>A GRCh38
NC_000004.11:g.3491419G>A , CM000666.1:g.3491419G>A GRCh37
NC_000004.10:g.3461217G>A NCBI36
NG_013072.2:g.31387G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340083.6:c.668G>A MANE Select ENSP00000344432.5:p.Gly223Glu
ENST00000643608.1:c.236G>A ENSP00000495701.1:p.Gly79Glu
ENST00000340083.5:c.668G>A ENSP00000344432.5:p.Gly223Glu
ENST00000503688.5:n.301G>A
ENST00000507039.5:c.657G>A ENSP00000423614.1:p.Gly219=
ENST00000513995.1:n.326G>A
ENST00000515886.5:n.436G>A
NM_001164673.1:c.657G>A NP_001158145.1:p.Gly219=
NM_001256896.1:c.-263G>A NP_001243825.1:n.-263G>A
NM_001301071.1:c.668G>A NP_001288000.1:p.Gly223Glu
NM_173660.4:c.668G>A NP_775931.3:p.Gly223Glu
XM_011513435.1:c.668G>A XP_011511737.1:p.Gly223Glu
XM_011513436.1:c.668G>A XP_011511738.1:p.Gly223Glu
XM_011513437.1:c.254G>A XP_011511739.1:p.Gly85Glu
NM_001363811.1:c.236G>A NP_001350740.1:p.Gly79Glu
XM_011513435.2:c.668G>A XP_011511737.1:p.Gly223Glu
XM_011513437.2:c.254G>A XP_011511739.1:p.Gly85Glu
NM_173660.5:c.668G>A MANE Select NP_775931.3:p.Gly223Glu
NM_001164673.2:c.657G>A NP_001158145.1:p.Gly219=
NM_001301071.2:c.668G>A NP_001288000.1:p.Gly223Glu
NM_001363811.2:c.236G>A NP_001350740.1:p.Gly79Glu
NM_001256896.2:c.-263G>A NP_001243825.1:n.-263G>A