Canonical Allele Identifier: CA2829236

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3492802C>G , CM000666.2:g.3492802C>G	GRCh38
NC_000004.11:g.3494529C>G , CM000666.1:g.3494529C>G	GRCh37
NC_000004.10:g.3464327C>G	NCBI36
NG_013072.2:g.34497C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.816C>G MANE Select	NP_775931.3:p.His272Gln
ENST00000340083.6:c.816C>G MANE Select	ENSP00000344432.5:p.His272Gln
NM_001164673.1:c.*37C>G	NP_001158145.1:n.*37C>G
NM_001164673.2:c.*37C>G	NP_001158145.1:n.*37C>G
NM_001256896.1:c.-115C>G	NP_001243825.1:n.-115C>G
NM_001256896.2:c.-115C>G	NP_001243825.1:n.-115C>G
NM_001301071.1:c.816C>G	NP_001288000.1:p.His272Gln
NM_001301071.2:c.816C>G	NP_001288000.1:p.His272Gln
NM_001363811.1:c.384C>G	NP_001350740.1:p.His128Gln
NM_001363811.2:c.384C>G	NP_001350740.1:p.His128Gln
NM_173660.4:c.816C>G	NP_775931.3:p.His272Gln
ENST00000340083.5:c.816C>G	ENSP00000344432.5:p.His272Gln
ENST00000503688.5:n.449C>G
ENST00000507039.5:c.*37C>G	ENSP00000423614.1:n.*37C>G
ENST00000512714.1:n.8C>G
ENST00000513995.1:n.474C>G
ENST00000515886.5:n.584C>G
ENST00000643608.1:c.384C>G	ENSP00000495701.1:p.His128Gln
XM_011513435.1:c.816C>G	XP_011511737.1:p.His272Gln
XM_011513435.2:c.816C>G	XP_011511737.1:p.His272Gln
XM_011513436.1:c.816C>G	XP_011511738.1:p.His272Gln
XM_011513437.1:c.402C>G	XP_011511739.1:p.His134Gln
XM_011513437.2:c.402C>G	XP_011511739.1:p.His134Gln