Canonical Allele Identifier: CA2828984

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3476389G>A , CM000666.2:g.3476389G>A	GRCh38
NC_000004.11:g.3478116G>A , CM000666.1:g.3478116G>A	GRCh37
NC_000004.10:g.3447914G>A	NCBI36
NG_013072.2:g.18084G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.379G>A MANE Select	NP_775931.3:p.Gly127Ser
ENST00000340083.6:c.379G>A MANE Select	ENSP00000344432.5:p.Gly127Ser
NM_001164673.1:c.379G>A	NP_001158145.1:p.Gly127Ser
NM_001164673.2:c.379G>A	NP_001158145.1:p.Gly127Ser
NM_001301071.1:c.379G>A	NP_001288000.1:p.Gly127Ser
NM_001301071.2:c.379G>A	NP_001288000.1:p.Gly127Ser
NM_001363811.1:c.101-9150G>A	NP_001350740.1:n.101-9150G>A
NM_001363811.2:c.101-9150G>A	NP_001350740.1:n.101-9150G>A
NM_173660.4:c.379G>A	NP_775931.3:p.Gly127Ser
ENST00000340083.5:c.379G>A	ENSP00000344432.5:p.Gly127Ser
ENST00000503688.5:n.166-9150G>A
ENST00000507039.5:c.379G>A	ENSP00000423614.1:p.Gly127Ser
ENST00000511267.5:n.398G>A
ENST00000643608.1:c.101-9150G>A	ENSP00000495701.1:n.101-9150G>A
XM_011513435.1:c.379G>A	XP_011511737.1:p.Gly127Ser
XM_011513435.2:c.379G>A	XP_011511737.1:p.Gly127Ser
XM_011513436.1:c.379G>A	XP_011511738.1:p.Gly127Ser
XM_011513437.1:c.-25G>A	XP_011511739.1:n.-25G>A
XM_011513437.2:c.-25G>A	XP_011511739.1:n.-25G>A
XR_925062.1:n.2C>T