Canonical Allele Identifier: CA2828906
Gene: DOK7 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3473507G>A , CM000666.2:g.3473507G>A GRCh38
NC_000004.11:g.3475234G>A , CM000666.1:g.3475234G>A GRCh37
NC_000004.10:g.3445032G>A NCBI36
NG_013072.2:g.15202G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340083.6:c.202G>A MANE Select ENSP00000344432.5:p.Gly68Ser
ENST00000643608.1:c.100+9956G>A ENSP00000495701.1:n.100+9956G>A
ENST00000340083.5:c.202G>A ENSP00000344432.5:p.Gly68Ser
ENST00000503688.5:n.165+9956G>A
ENST00000507039.5:c.202G>A ENSP00000423614.1:p.Gly68Ser
ENST00000511267.5:n.221G>A
NM_001164673.1:c.202G>A NP_001158145.1:p.Gly68Ser
NM_001301071.1:c.202G>A NP_001288000.1:p.Gly68Ser
NM_173660.4:c.202G>A NP_775931.3:p.Gly68Ser
XM_011513435.1:c.202G>A XP_011511737.1:p.Gly68Ser
XM_011513436.1:c.202G>A XP_011511738.1:p.Gly68Ser
XM_011513437.1:c.-202G>A XP_011511739.1:n.-202G>A
NM_001363811.1:c.100+9956G>A NP_001350740.1:n.100+9956G>A
XM_011513435.2:c.202G>A XP_011511737.1:p.Gly68Ser
XM_011513437.2:c.-202G>A XP_011511739.1:n.-202G>A
NM_173660.5:c.202G>A MANE Select NP_775931.3:p.Gly68Ser
NM_001164673.2:c.202G>A NP_001158145.1:p.Gly68Ser
NM_001301071.2:c.202G>A NP_001288000.1:p.Gly68Ser
NM_001363811.2:c.100+9956G>A NP_001350740.1:n.100+9956G>A