Canonical Allele Identifier: CA356114241
Community Standard Title: NM_173660.5(DOK7):c.396C>G (p.His132Gln)
Gene: DOK7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3476406C>G , CM000666.2:g.3476406C>G GRCh38
NC_000004.11:g.3478133C>G , CM000666.1:g.3478133C>G GRCh37
NC_000004.10:g.3447931C>G NCBI36
NG_013072.2:g.18101C>G

Transcript Alleles

HGVS Amino-acid Change
NM_173660.5:c.396C>G MANE Select NP_775931.3:p.His132Gln
ENST00000340083.6:c.396C>G MANE Select ENSP00000344432.5:p.His132Gln
NM_001164673.1:c.396C>G NP_001158145.1:p.His132Gln
NM_001164673.2:c.396C>G NP_001158145.1:p.His132Gln
NM_001301071.1:c.396C>G NP_001288000.1:p.His132Gln
NM_001301071.2:c.396C>G NP_001288000.1:p.His132Gln
NM_001363811.1:c.101-9133C>G NP_001350740.1:n.101-9133C>G
NM_001363811.2:c.101-9133C>G NP_001350740.1:n.101-9133C>G
NM_173660.4:c.396C>G NP_775931.3:p.His132Gln
ENST00000340083.5:c.396C>G ENSP00000344432.5:p.His132Gln
ENST00000503688.5:n.166-9133C>G
ENST00000507039.5:c.396C>G ENSP00000423614.1:p.His132Gln
ENST00000511267.5:n.415C>G
ENST00000643608.1:c.101-9133C>G ENSP00000495701.1:n.101-9133C>G
XM_011513435.1:c.396C>G XP_011511737.1:p.His132Gln
XM_011513435.2:c.396C>G XP_011511737.1:p.His132Gln
XM_011513436.1:c.396C>G XP_011511738.1:p.His132Gln
XM_011513437.1:c.-8C>G XP_011511739.1:n.-8C>G
XM_011513437.2:c.-8C>G XP_011511739.1:n.-8C>G