Canonical Allele Identifier: CA2146832438

Gene: COQ6 ENTPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73961867G= , CM000676.2:g.73961867G=	GRCh38
NC_000014.8:g.74428570G= , CM000676.1:g.74428570G=	GRCh37
NC_000014.7:g.73498323G=	NCBI36
NG_032805.1:g.16934G=

Transcript Alleles

HGVS	Amino-acid Change
NM_182476.3:c.1341G= (COQ6) MANE Select	NP_872282.1:p.Trp447=
ENST00000334571.7:c.1341G= (COQ6) MANE Select	ENSP00000333946.2:p.Trp447=
NM_001321984.1:c.1201-317C= (ENTPD5)	NP_001308913.1:n.1201-317C=
NM_001321984.2:c.1201-317C= (ENTPD5)	NP_001308913.1:n.1201-317C=
NM_001330189.1:c.1201-2314C= (ENTPD5)	NP_001317118.1:n.1201-2314C=
NM_001330189.2:c.1201-2314C= (ENTPD5)	NP_001317118.1:n.1201-2314C=
NM_001382258.1:c.1201-6280C= (ENTPD5)	NP_001369187.1:n.1201-6280C=
NM_001382259.1:c.1201-2314C= (ENTPD5)	NP_001369188.1:n.1201-2314C=
NM_001382260.1:c.1201-2314C= (ENTPD5)	NP_001369189.1:n.1201-2314C=
NM_001382262.1:c.1201-6039C= (ENTPD5)	NP_001369191.1:n.1201-6039C=
NM_182476.2:c.1341G= (COQ6)	NP_872282.1:p.Trp447=
NM_182480.2:c.1266G= (COQ6)	NP_872286.2:p.Trp422=
NM_182480.3:c.1266G= (COQ6)	NP_872286.2:p.Trp422=
ENST00000238709.8:c.1338G= (COQ6)	ENSP00000238709.5:p.Trp446=
ENST00000334571.6:c.1341G= (COQ6)	ENSP00000333946.2:p.Trp447=
ENST00000394026.8:c.1266G= (COQ6)	ENSP00000377594.4:p.Trp422=
ENST00000554341.6:c.*946G= (COQ6)	ENSP00000450736.2:n.*946G=
ENST00000554920.5:c.482-1103G= (COQ6)	ENSP00000451562.1:n.482-1103G=
ENST00000555829.5:c.225-317C= (ENTPD5)
ENST00000556299.1:n.552G= (COQ6)
ENST00000556588.5:n.2941G= (COQ6)
ENST00000557325.5:c.1201-2314C= (ENTPD5)	ENSP00000451810.1:n.1201-2314C=
ENST00000557780.5:n.343+297G= (COQ6)
ENST00000629426.2:c.1116G= (COQ6)	ENSP00000486650.1:p.Trp372=
XM_005267716.1:c.1176G= (COQ6)	XP_005267773.1:p.Trp392=
XM_006720156.1:c.1014G= (COQ6)	XP_006720219.1:p.Trp338=
XM_006720325.2:c.1201-2314C= (ENTPD5)	XP_006720388.1:n.1201-2314C=
XM_006720325.3:c.1201-2314C= (ENTPD5)	XP_006720388.1:n.1201-2314C=
XM_011536807.1:c.1233G= (COQ6)	XP_011535109.1:p.Trp411=
XM_011536807.2:c.1233G= (COQ6)	XP_011535109.1:p.Trp411=
XM_011536808.1:c.1116G= (COQ6)	XP_011535110.1:p.Trp372=
XM_011536808.2:c.1116G= (COQ6)	XP_011535110.1:p.Trp372=
XM_011536809.1:c.1116G= (COQ6)	XP_011535111.1:p.Trp372=
XM_011536809.3:c.1116G= (COQ6)	XP_011535111.1:p.Trp372=
XM_011536810.1:c.892-1103G= (COQ6)	XP_011535112.1:n.892-1103G=
XM_011536810.3:c.892-1103G= (COQ6)	XP_011535112.1:n.892-1103G=
XM_011536811.1:c.801G= (COQ6)	XP_011535113.1:p.Trp267=
XM_017021351.2:c.801G= (COQ6)	XP_016876840.1:p.Trp267=
XM_017021352.2:c.735G= (COQ6)	XP_016876841.1:p.Trp245=
XM_017021814.1:c.1201-2314C= (ENTPD5)	XP_016877303.1:n.1201-2314C=
XM_017021817.1:c.1060-2314C= (ENTPD5)	XP_016877306.1:n.1060-2314C=
XM_024449619.1:c.735G= (COQ6)	XP_024305387.1:p.Trp245=
XR_001750342.1:n.1495G= (COQ6)