Canonical Allele Identifier: CA2146831241

Gene: COQ6 ENTPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73959204G= , CM000676.2:g.73959204G=	GRCh38
NC_000014.8:g.74425907G= , CM000676.1:g.74425907G=	GRCh37
NC_000014.7:g.73495660G=	NCBI36
NG_032805.1:g.14271G=

Transcript Alleles

HGVS	Amino-acid Change
NM_182476.3:c.763G= (COQ6) MANE Select	NP_872282.1:p.Gly255=
ENST00000334571.7:c.763G= (COQ6) MANE Select	ENSP00000333946.2:p.Gly255=
NM_001330189.1:c.*326C= (ENTPD5)	NP_001317118.1:n.*326C=
NM_001330189.2:c.*326C= (ENTPD5)	NP_001317118.1:n.*326C=
NM_001382258.1:c.1201-3617C= (ENTPD5)	NP_001369187.1:n.1201-3617C=
NM_001382259.1:c.*326C= (ENTPD5)	NP_001369188.1:n.*326C=
NM_001382260.1:c.*326C= (ENTPD5)	NP_001369189.1:n.*326C=
NM_001382262.1:c.1201-3376C= (ENTPD5)	NP_001369191.1:n.1201-3376C=
NM_182476.2:c.763G= (COQ6)	NP_872282.1:p.Gly255=
NM_182480.2:c.688G= (COQ6)	NP_872286.2:p.Gly230=
NM_182480.3:c.688G= (COQ6)	NP_872286.2:p.Gly230=
ENST00000238709.8:c.760G= (COQ6)	ENSP00000238709.5:p.Gly254=
ENST00000334571.6:c.763G= (COQ6)	ENSP00000333946.2:p.Gly255=
ENST00000394026.8:c.688G= (COQ6)	ENSP00000377594.4:p.Gly230=
ENST00000553448.1:n.215G= (COQ6)
ENST00000553462.6:n.1304G= (COQ6)
ENST00000554320.1:c.538G= (COQ6)	ENSP00000451123.1:p.Gly180=
ENST00000554341.6:c.*368G= (COQ6)	ENSP00000450736.2:n.*368G=
ENST00000554920.5:c.481+3276G= (COQ6)	ENSP00000451562.1:n.481+3276G=
ENST00000555511.5:n.881G= (COQ6)
ENST00000556588.5:n.713G= (COQ6)
ENST00000557325.5:c.*326C= (ENTPD5)	ENSP00000451810.1:n.*326C=
ENST00000557584.5:c.*368G= (COQ6)	ENSP00000450511.1:n.*368G=
ENST00000629426.2:c.538G= (COQ6)	ENSP00000486650.1:p.Gly180=
XM_005267716.1:c.598G= (COQ6)	XP_005267773.1:p.Gly200=
XM_006720156.1:c.436G= (COQ6)	XP_006720219.1:p.Gly146=
XM_011536807.1:c.763G= (COQ6)	XP_011535109.1:p.Gly255=
XM_011536807.2:c.763G= (COQ6)	XP_011535109.1:p.Gly255=
XM_011536808.1:c.538G= (COQ6)	XP_011535110.1:p.Gly180=
XM_011536808.2:c.538G= (COQ6)	XP_011535110.1:p.Gly180=
XM_011536809.1:c.538G= (COQ6)	XP_011535111.1:p.Gly180=
XM_011536809.3:c.538G= (COQ6)	XP_011535111.1:p.Gly180=
XM_011536810.1:c.763G= (COQ6)	XP_011535112.1:p.Gly255=
XM_011536810.3:c.763G= (COQ6)	XP_011535112.1:p.Gly255=
XM_011536811.1:c.223G= (COQ6)	XP_011535113.1:p.Gly75=
XM_017021351.2:c.223G= (COQ6)	XP_016876840.1:p.Gly75=
XM_017021352.2:c.157G= (COQ6)	XP_016876841.1:p.Gly53=
XM_024449619.1:c.157G= (COQ6)	XP_024305387.1:p.Gly53=
XR_001750342.1:n.727G= (COQ6)
XR_943465.1:n.816G= (COQ6)
XR_943465.3:n.793G= (COQ6)
XR_943466.1:n.816G= (COQ6)
XR_943466.3:n.793G= (COQ6)