Canonical Allele Identifier: CA2829019

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3476524G>A , CM000666.2:g.3476524G>A	GRCh38
NC_000004.11:g.3478251G>A , CM000666.1:g.3478251G>A	GRCh37
NC_000004.10:g.3448049G>A	NCBI36
NG_013072.2:g.18219G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.514G>A MANE Select	NP_775931.3:p.Gly172Arg
ENST00000340083.6:c.514G>A MANE Select	ENSP00000344432.5:p.Gly172Arg
NM_001164673.1:c.514G>A	NP_001158145.1:p.Gly172Arg
NM_001164673.2:c.514G>A	NP_001158145.1:p.Gly172Arg
NM_001301071.1:c.514G>A	NP_001288000.1:p.Gly172Arg
NM_001301071.2:c.514G>A	NP_001288000.1:p.Gly172Arg
NM_001363811.1:c.101-9015G>A	NP_001350740.1:n.101-9015G>A
NM_001363811.2:c.101-9015G>A	NP_001350740.1:n.101-9015G>A
NM_173660.4:c.514G>A	NP_775931.3:p.Gly172Arg
ENST00000340083.5:c.514G>A	ENSP00000344432.5:p.Gly172Arg
ENST00000503688.5:n.166-9015G>A
ENST00000507039.5:c.514G>A	ENSP00000423614.1:p.Gly172Arg
ENST00000511267.5:n.533G>A
ENST00000643608.1:c.101-9015G>A	ENSP00000495701.1:n.101-9015G>A
XM_011513435.1:c.514G>A	XP_011511737.1:p.Gly172Arg
XM_011513435.2:c.514G>A	XP_011511737.1:p.Gly172Arg
XM_011513436.1:c.514G>A	XP_011511738.1:p.Gly172Arg
XM_011513437.1:c.111G>A	XP_011511739.1:p.Ala37=
XM_011513437.2:c.111G>A	XP_011511739.1:p.Ala37=