Canonical Allele Identifier: CA7264502

Gene: COQ6 ENTPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73961845C>A , CM000676.2:g.73961845C>A	GRCh38
NC_000014.8:g.74428548C>A , CM000676.1:g.74428548C>A	GRCh37
NC_000014.7:g.73498301C>A	NCBI36
NG_032805.1:g.16912C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.1319C>A (COQ6) MANE Select	ENSP00000333946.2:p.Pro440Gln
ENST00000238709.8:c.1316C>A (COQ6)	ENSP00000238709.5:p.Pro439Gln
ENST00000334571.6:c.1319C>A (COQ6)	ENSP00000333946.2:p.Pro440Gln
ENST00000394026.8:c.1244C>A (COQ6)	ENSP00000377594.4:p.Pro415Gln
ENST00000554341.6:c.*924C>A (COQ6)	ENSP00000450736.2:n.*924C>A
ENST00000554920.5:c.482-1125C>A (COQ6)	ENSP00000451562.1:n.482-1125C>A
ENST00000555829.5:c.225-295G>T (ENTPD5)
ENST00000556299.1:n.530C>A (COQ6)
ENST00000556588.5:n.2919C>A (COQ6)
ENST00000557325.5:c.1201-2292G>T (ENTPD5)	ENSP00000451810.1:n.1201-2292G>T
ENST00000557780.5:n.343+275C>A (COQ6)
ENST00000629426.2:c.1094C>A (COQ6)	ENSP00000486650.1:p.Pro365Gln
NM_182476.2:c.1319C>A (COQ6)	NP_872282.1:p.Pro440Gln
NM_182480.2:c.1244C>A (COQ6)	NP_872286.2:p.Pro415Gln
XM_005267716.1:c.1154C>A (COQ6)	XP_005267773.1:p.Pro385Gln
XM_006720156.1:c.992C>A (COQ6)	XP_006720219.1:p.Pro331Gln
XM_006720325.2:c.1201-2292G>T (ENTPD5)	XP_006720388.1:n.1201-2292G>T
XM_011536807.1:c.1211C>A (COQ6)	XP_011535109.1:p.Pro404Gln
XM_011536808.1:c.1094C>A (COQ6)	XP_011535110.1:p.Pro365Gln
XM_011536809.1:c.1094C>A (COQ6)	XP_011535111.1:p.Pro365Gln
XM_011536810.1:c.892-1125C>A (COQ6)	XP_011535112.1:n.892-1125C>A
XM_011536811.1:c.779C>A (COQ6)	XP_011535113.1:p.Pro260Gln
NM_001321984.1:c.1201-295G>T (ENTPD5)	NP_001308913.1:n.1201-295G>T
NM_001330189.1:c.1201-2292G>T (ENTPD5)	NP_001317118.1:n.1201-2292G>T
XM_006720325.3:c.1201-2292G>T (ENTPD5)	XP_006720388.1:n.1201-2292G>T
XM_011536807.2:c.1211C>A (COQ6)	XP_011535109.1:p.Pro404Gln
XM_011536808.2:c.1094C>A (COQ6)	XP_011535110.1:p.Pro365Gln
XM_011536809.3:c.1094C>A (COQ6)	XP_011535111.1:p.Pro365Gln
XM_011536810.3:c.892-1125C>A (COQ6)	XP_011535112.1:n.892-1125C>A
XM_017021351.2:c.779C>A (COQ6)	XP_016876840.1:p.Pro260Gln
XM_017021352.2:c.713C>A (COQ6)	XP_016876841.1:p.Pro238Gln
XM_017021814.1:c.1201-2292G>T (ENTPD5)	XP_016877303.1:n.1201-2292G>T
XM_017021817.1:c.1060-2292G>T (ENTPD5)	XP_016877306.1:n.1060-2292G>T
XM_024449619.1:c.713C>A (COQ6)	XP_024305387.1:p.Pro238Gln
XR_001750342.1:n.1473C>A (COQ6)
NM_001321984.2:c.1201-295G>T (ENTPD5)	NP_001308913.1:n.1201-295G>T
NM_001330189.2:c.1201-2292G>T (ENTPD5)	NP_001317118.1:n.1201-2292G>T
NM_182476.3:c.1319C>A (COQ6) MANE Select	NP_872282.1:p.Pro440Gln
NM_001382258.1:c.1201-6258G>T (ENTPD5)	NP_001369187.1:n.1201-6258G>T
NM_001382259.1:c.1201-2292G>T (ENTPD5)	NP_001369188.1:n.1201-2292G>T
NM_001382260.1:c.1201-2292G>T (ENTPD5)	NP_001369189.1:n.1201-2292G>T
NM_001382262.1:c.1201-6017G>T (ENTPD5)	NP_001369191.1:n.1201-6017G>T
NM_182480.3:c.1244C>A (COQ6)	NP_872286.2:p.Pro415Gln