Canonical Allele Identifier: CA2828922
Gene: DOK7 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3473601C>T , CM000666.2:g.3473601C>T GRCh38
NC_000004.11:g.3475328C>T , CM000666.1:g.3475328C>T GRCh37
NC_000004.10:g.3445126C>T NCBI36
NG_013072.2:g.15296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340083.6:c.296C>T MANE Select ENSP00000344432.5:p.Ala99Val
ENST00000643608.1:c.100+10050C>T ENSP00000495701.1:n.100+10050C>T
ENST00000340083.5:c.296C>T ENSP00000344432.5:p.Ala99Val
ENST00000503688.5:n.165+10050C>T
ENST00000507039.5:c.296C>T ENSP00000423614.1:p.Ala99Val
ENST00000511267.5:n.315C>T
NM_001164673.1:c.296C>T NP_001158145.1:p.Ala99Val
NM_001301071.1:c.296C>T NP_001288000.1:p.Ala99Val
NM_173660.4:c.296C>T NP_775931.3:p.Ala99Val
XM_011513435.1:c.296C>T XP_011511737.1:p.Ala99Val
XM_011513436.1:c.296C>T XP_011511738.1:p.Ala99Val
XM_011513437.1:c.-108C>T XP_011511739.1:n.-108C>T
NM_001363811.1:c.100+10050C>T NP_001350740.1:n.100+10050C>T
XM_011513435.2:c.296C>T XP_011511737.1:p.Ala99Val
XM_011513437.2:c.-108C>T XP_011511739.1:n.-108C>T
NM_173660.5:c.296C>T MANE Select NP_775931.3:p.Ala99Val
NM_001164673.2:c.296C>T NP_001158145.1:p.Ala99Val
NM_001301071.2:c.296C>T NP_001288000.1:p.Ala99Val
NM_001363811.2:c.100+10050C>T NP_001350740.1:n.100+10050C>T