Canonical Allele Identifier: CA2146832400

Gene: COQ6 ENTPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73961761A= , CM000676.2:g.73961761A=	GRCh38
NC_000014.8:g.74428464A= , CM000676.1:g.74428464A=	GRCh37
NC_000014.7:g.73498217A=	NCBI36
NG_032805.1:g.16828A=

Transcript Alleles

HGVS	Amino-acid Change
NM_182476.3:c.1235A= (COQ6) MANE Select	NP_872282.1:p.Tyr412=
ENST00000334571.7:c.1235A= (COQ6) MANE Select	ENSP00000333946.2:p.Tyr412=
NM_001321984.1:c.1201-211T= (ENTPD5)	NP_001308913.1:n.1201-211T=
NM_001321984.2:c.1201-211T= (ENTPD5)	NP_001308913.1:n.1201-211T=
NM_001330189.1:c.1201-2208T= (ENTPD5)	NP_001317118.1:n.1201-2208T=
NM_001330189.2:c.1201-2208T= (ENTPD5)	NP_001317118.1:n.1201-2208T=
NM_001382258.1:c.1201-6174T= (ENTPD5)	NP_001369187.1:n.1201-6174T=
NM_001382259.1:c.1201-2208T= (ENTPD5)	NP_001369188.1:n.1201-2208T=
NM_001382260.1:c.1201-2208T= (ENTPD5)	NP_001369189.1:n.1201-2208T=
NM_001382262.1:c.1201-5933T= (ENTPD5)	NP_001369191.1:n.1201-5933T=
NM_182476.2:c.1235A= (COQ6)	NP_872282.1:p.Tyr412=
NM_182480.2:c.1160A= (COQ6)	NP_872286.2:p.Tyr387=
NM_182480.3:c.1160A= (COQ6)	NP_872286.2:p.Tyr387=
ENST00000238709.8:c.1232A= (COQ6)	ENSP00000238709.5:p.Tyr411=
ENST00000334571.6:c.1235A= (COQ6)	ENSP00000333946.2:p.Tyr412=
ENST00000394026.8:c.1160A= (COQ6)	ENSP00000377594.4:p.Tyr387=
ENST00000554341.6:c.*840A= (COQ6)	ENSP00000450736.2:n.*840A=
ENST00000554920.5:c.482-1209A= (COQ6)	ENSP00000451562.1:n.482-1209A=
ENST00000555829.5:c.225-211T= (ENTPD5)
ENST00000556299.1:n.446A= (COQ6)
ENST00000556588.5:n.2835A= (COQ6)
ENST00000557325.5:c.1201-2208T= (ENTPD5)	ENSP00000451810.1:n.1201-2208T=
ENST00000557780.5:n.343+191A= (COQ6)
ENST00000629426.2:c.1010A= (COQ6)	ENSP00000486650.1:p.Tyr337=
XM_005267716.1:c.1070A= (COQ6)	XP_005267773.1:p.Tyr357=
XM_006720156.1:c.908A= (COQ6)	XP_006720219.1:p.Tyr303=
XM_006720325.2:c.1201-2208T= (ENTPD5)	XP_006720388.1:n.1201-2208T=
XM_006720325.3:c.1201-2208T= (ENTPD5)	XP_006720388.1:n.1201-2208T=
XM_011536807.1:c.1127A= (COQ6)	XP_011535109.1:p.Tyr376=
XM_011536807.2:c.1127A= (COQ6)	XP_011535109.1:p.Tyr376=
XM_011536808.1:c.1010A= (COQ6)	XP_011535110.1:p.Tyr337=
XM_011536808.2:c.1010A= (COQ6)	XP_011535110.1:p.Tyr337=
XM_011536809.1:c.1010A= (COQ6)	XP_011535111.1:p.Tyr337=
XM_011536809.3:c.1010A= (COQ6)	XP_011535111.1:p.Tyr337=
XM_011536810.1:c.892-1209A= (COQ6)	XP_011535112.1:n.892-1209A=
XM_011536810.3:c.892-1209A= (COQ6)	XP_011535112.1:n.892-1209A=
XM_011536811.1:c.695A= (COQ6)	XP_011535113.1:p.Tyr232=
XM_017021351.2:c.695A= (COQ6)	XP_016876840.1:p.Tyr232=
XM_017021352.2:c.629A= (COQ6)	XP_016876841.1:p.Tyr210=
XM_017021814.1:c.1201-2208T= (ENTPD5)	XP_016877303.1:n.1201-2208T=
XM_017021817.1:c.1060-2208T= (ENTPD5)	XP_016877306.1:n.1060-2208T=
XM_024449619.1:c.629A= (COQ6)	XP_024305387.1:p.Tyr210=
XR_001750342.1:n.1389A= (COQ6)