Canonical Allele Identifier: CA2146830830

Gene: COQ6 ENTPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73958229G= , CM000676.2:g.73958229G=	GRCh38
NC_000014.8:g.74424932G= , CM000676.1:g.74424932G=	GRCh37
NC_000014.7:g.73494685G=	NCBI36
NG_032805.1:g.13296G=

Transcript Alleles

HGVS	Amino-acid Change
NM_182476.3:c.564G= (COQ6) MANE Select	NP_872282.1:p.Trp188=
ENST00000334571.7:c.564G= (COQ6) MANE Select	ENSP00000333946.2:p.Trp188=
NM_001330189.1:c.*1301C= (ENTPD5)	NP_001317118.1:n.*1301C=
NM_001330189.2:c.*1301C= (ENTPD5)	NP_001317118.1:n.*1301C=
NM_001382258.1:c.1201-2642C= (ENTPD5)	NP_001369187.1:n.1201-2642C=
NM_001382259.1:c.*1301C= (ENTPD5)	NP_001369188.1:n.*1301C=
NM_001382260.1:c.*1301C= (ENTPD5)	NP_001369189.1:n.*1301C=
NM_001382262.1:c.1201-2401C= (ENTPD5)	NP_001369191.1:n.1201-2401C=
NM_182476.2:c.564G= (COQ6)	NP_872282.1:p.Trp188=
NM_182480.2:c.489G= (COQ6)	NP_872286.2:p.Trp163=
NM_182480.3:c.489G= (COQ6)	NP_872286.2:p.Trp163=
ENST00000238709.8:c.561G= (COQ6)	ENSP00000238709.5:p.Trp187=
ENST00000334571.6:c.564G= (COQ6)	ENSP00000333946.2:p.Trp188=
ENST00000394026.8:c.489G= (COQ6)	ENSP00000377594.4:p.Trp163=
ENST00000553462.6:n.412G= (COQ6)
ENST00000554153.5:c.*169G= (COQ6)	ENSP00000451685.1:n.*169G=
ENST00000554320.1:c.339G= (COQ6)	ENSP00000451123.1:p.Trp113=
ENST00000554341.6:c.*169G= (COQ6)	ENSP00000450736.2:n.*169G=
ENST00000554920.5:c.481+2301G= (COQ6)	ENSP00000451562.1:n.481+2301G=
ENST00000555511.5:n.682G= (COQ6)
ENST00000556300.6:n.598G= (COQ6)
ENST00000557205.6:n.528G= (COQ6)
ENST00000557325.5:c.*1301C= (ENTPD5)	ENSP00000451810.1:n.*1301C=
ENST00000557584.5:c.*169G= (COQ6)	ENSP00000450511.1:n.*169G=
ENST00000629426.2:c.339G= (COQ6)	ENSP00000486650.1:p.Trp113=
XM_005267716.1:c.399G= (COQ6)	XP_005267773.1:p.Trp133=
XM_006720156.1:c.237G= (COQ6)	XP_006720219.1:p.Trp79=
XM_011536807.1:c.564G= (COQ6)	XP_011535109.1:p.Trp188=
XM_011536807.2:c.564G= (COQ6)	XP_011535109.1:p.Trp188=
XM_011536808.1:c.339G= (COQ6)	XP_011535110.1:p.Trp113=
XM_011536808.2:c.339G= (COQ6)	XP_011535110.1:p.Trp113=
XM_011536809.1:c.339G= (COQ6)	XP_011535111.1:p.Trp113=
XM_011536809.3:c.339G= (COQ6)	XP_011535111.1:p.Trp113=
XM_011536810.1:c.564G= (COQ6)	XP_011535112.1:p.Trp188=
XM_011536810.3:c.564G= (COQ6)	XP_011535112.1:p.Trp188=
XM_011536811.1:c.73-742G= (COQ6)	XP_011535113.1:n.73-742G=
XM_017021351.2:c.73-742G= (COQ6)	XP_016876840.1:n.73-742G=
XM_017021352.2:c.-736G= (COQ6)	XP_016876841.1:n.-736G=
XM_024449619.1:c.-185G= (COQ6)	XP_024305387.1:n.-185G=
XR_001750342.1:n.528G= (COQ6)
XR_943465.1:n.617G= (COQ6)
XR_943465.3:n.594G= (COQ6)
XR_943466.1:n.617G= (COQ6)
XR_943466.3:n.594G= (COQ6)