Canonical Allele Identifier: CA2146832214

Gene: COQ6 ENTPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73961339C= , CM000676.2:g.73961339C=	GRCh38
NC_000014.8:g.74428042C= , CM000676.1:g.74428042C=	GRCh37
NC_000014.7:g.73497795C=	NCBI36
NG_032805.1:g.16406C=

Transcript Alleles

HGVS	Amino-acid Change
NM_182476.3:c.1058C= (COQ6) MANE Select	NP_872282.1:p.Ala353=
ENST00000334571.7:c.1058C= (COQ6) MANE Select	ENSP00000333946.2:p.Ala353=
NM_001321984.1:c.*194G= (ENTPD5)	NP_001308913.1:n.*194G=
NM_001321984.2:c.*194G= (ENTPD5)	NP_001308913.1:n.*194G=
NM_001330189.1:c.1201-1786G= (ENTPD5)	NP_001317118.1:n.1201-1786G=
NM_001330189.2:c.1201-1786G= (ENTPD5)	NP_001317118.1:n.1201-1786G=
NM_001382258.1:c.1201-5752G= (ENTPD5)	NP_001369187.1:n.1201-5752G=
NM_001382259.1:c.1201-1786G= (ENTPD5)	NP_001369188.1:n.1201-1786G=
NM_001382260.1:c.1201-1786G= (ENTPD5)	NP_001369189.1:n.1201-1786G=
NM_001382262.1:c.1201-5511G= (ENTPD5)	NP_001369191.1:n.1201-5511G=
NM_182476.2:c.1058C= (COQ6)	NP_872282.1:p.Ala353=
NM_182480.2:c.983C= (COQ6)	NP_872286.2:p.Ala328=
NM_182480.3:c.983C= (COQ6)	NP_872286.2:p.Ala328=
ENST00000238709.8:c.1055C= (COQ6)	ENSP00000238709.5:p.Ala352=
ENST00000334571.6:c.1058C= (COQ6)	ENSP00000333946.2:p.Ala353=
ENST00000394026.8:c.983C= (COQ6)	ENSP00000377594.4:p.Ala328=
ENST00000554341.6:c.*663C= (COQ6)	ENSP00000450736.2:n.*663C=
ENST00000554920.5:c.482-1631C= (COQ6)	ENSP00000451562.1:n.482-1631C=
ENST00000555829.5:c.436G= (ENTPD5)
ENST00000556299.1:n.269C= (COQ6)
ENST00000556588.5:n.2658C= (COQ6)
ENST00000557325.5:c.1201-1786G= (ENTPD5)	ENSP00000451810.1:n.1201-1786G=
ENST00000557780.5:n.191C= (COQ6)
ENST00000629426.2:c.833C= (COQ6)	ENSP00000486650.1:p.Ala278=
XM_005267716.1:c.893C= (COQ6)	XP_005267773.1:p.Ala298=
XM_006720156.1:c.731C= (COQ6)	XP_006720219.1:p.Ala244=
XM_006720325.2:c.1201-1786G= (ENTPD5)	XP_006720388.1:n.1201-1786G=
XM_006720325.3:c.1201-1786G= (ENTPD5)	XP_006720388.1:n.1201-1786G=
XM_011536807.1:c.950C= (COQ6)	XP_011535109.1:p.Ala317=
XM_011536807.2:c.950C= (COQ6)	XP_011535109.1:p.Ala317=
XM_011536808.1:c.833C= (COQ6)	XP_011535110.1:p.Ala278=
XM_011536808.2:c.833C= (COQ6)	XP_011535110.1:p.Ala278=
XM_011536809.1:c.833C= (COQ6)	XP_011535111.1:p.Ala278=
XM_011536809.3:c.833C= (COQ6)	XP_011535111.1:p.Ala278=
XM_011536810.1:c.892-1631C= (COQ6)	XP_011535112.1:n.892-1631C=
XM_011536810.3:c.892-1631C= (COQ6)	XP_011535112.1:n.892-1631C=
XM_011536811.1:c.518C= (COQ6)	XP_011535113.1:p.Ala173=
XM_017021351.2:c.518C= (COQ6)	XP_016876840.1:p.Ala173=
XM_017021352.2:c.452C= (COQ6)	XP_016876841.1:p.Ala151=
XM_017021814.1:c.1201-1786G= (ENTPD5)	XP_016877303.1:n.1201-1786G=
XM_017021817.1:c.1060-1786G= (ENTPD5)	XP_016877306.1:n.1060-1786G=
XM_024449619.1:c.452C= (COQ6)	XP_024305387.1:p.Ala151=
XR_001750342.1:n.1212C= (COQ6)