Canonical Allele Identifier: CA7264497

Gene: COQ6 ENTPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73961825C>G , CM000676.2:g.73961825C>G	GRCh38
NC_000014.8:g.74428528C>G , CM000676.1:g.74428528C>G	GRCh37
NC_000014.7:g.73498281C>G	NCBI36
NG_032805.1:g.16892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.1299C>G (COQ6) MANE Select	ENSP00000333946.2:p.Leu433=
ENST00000238709.8:c.1296C>G (COQ6)	ENSP00000238709.5:p.Leu432=
ENST00000334571.6:c.1299C>G (COQ6)	ENSP00000333946.2:p.Leu433=
ENST00000394026.8:c.1224C>G (COQ6)	ENSP00000377594.4:p.Leu408=
ENST00000554341.6:c.*904C>G (COQ6)	ENSP00000450736.2:n.*904C>G
ENST00000554920.5:c.482-1145C>G (COQ6)	ENSP00000451562.1:n.482-1145C>G
ENST00000555829.5:c.225-275G>C (ENTPD5)
ENST00000556299.1:n.510C>G (COQ6)
ENST00000556588.5:n.2899C>G (COQ6)
ENST00000557325.5:c.1201-2272G>C (ENTPD5)	ENSP00000451810.1:n.1201-2272G>C
ENST00000557780.5:n.343+255C>G (COQ6)
ENST00000629426.2:c.1074C>G (COQ6)	ENSP00000486650.1:p.Leu358=
NM_182476.2:c.1299C>G (COQ6)	NP_872282.1:p.Leu433=
NM_182480.2:c.1224C>G (COQ6)	NP_872286.2:p.Leu408=
XM_005267716.1:c.1134C>G (COQ6)	XP_005267773.1:p.Leu378=
XM_006720156.1:c.972C>G (COQ6)	XP_006720219.1:p.Leu324=
XM_006720325.2:c.1201-2272G>C (ENTPD5)	XP_006720388.1:n.1201-2272G>C
XM_011536807.1:c.1191C>G (COQ6)	XP_011535109.1:p.Leu397=
XM_011536808.1:c.1074C>G (COQ6)	XP_011535110.1:p.Leu358=
XM_011536809.1:c.1074C>G (COQ6)	XP_011535111.1:p.Leu358=
XM_011536810.1:c.892-1145C>G (COQ6)	XP_011535112.1:n.892-1145C>G
XM_011536811.1:c.759C>G (COQ6)	XP_011535113.1:p.Leu253=
NM_001321984.1:c.1201-275G>C (ENTPD5)	NP_001308913.1:n.1201-275G>C
NM_001330189.1:c.1201-2272G>C (ENTPD5)	NP_001317118.1:n.1201-2272G>C
XM_006720325.3:c.1201-2272G>C (ENTPD5)	XP_006720388.1:n.1201-2272G>C
XM_011536807.2:c.1191C>G (COQ6)	XP_011535109.1:p.Leu397=
XM_011536808.2:c.1074C>G (COQ6)	XP_011535110.1:p.Leu358=
XM_011536809.3:c.1074C>G (COQ6)	XP_011535111.1:p.Leu358=
XM_011536810.3:c.892-1145C>G (COQ6)	XP_011535112.1:n.892-1145C>G
XM_017021351.2:c.759C>G (COQ6)	XP_016876840.1:p.Leu253=
XM_017021352.2:c.693C>G (COQ6)	XP_016876841.1:p.Leu231=
XM_017021814.1:c.1201-2272G>C (ENTPD5)	XP_016877303.1:n.1201-2272G>C
XM_017021817.1:c.1060-2272G>C (ENTPD5)	XP_016877306.1:n.1060-2272G>C
XM_024449619.1:c.693C>G (COQ6)	XP_024305387.1:p.Leu231=
XR_001750342.1:n.1453C>G (COQ6)
NM_001321984.2:c.1201-275G>C (ENTPD5)	NP_001308913.1:n.1201-275G>C
NM_001330189.2:c.1201-2272G>C (ENTPD5)	NP_001317118.1:n.1201-2272G>C
NM_182476.3:c.1299C>G (COQ6) MANE Select	NP_872282.1:p.Leu433=
NM_001382258.1:c.1201-6238G>C (ENTPD5)	NP_001369187.1:n.1201-6238G>C
NM_001382259.1:c.1201-2272G>C (ENTPD5)	NP_001369188.1:n.1201-2272G>C
NM_001382260.1:c.1201-2272G>C (ENTPD5)	NP_001369189.1:n.1201-2272G>C
NM_001382262.1:c.1201-5997G>C (ENTPD5)	NP_001369191.1:n.1201-5997G>C
NM_182480.3:c.1224C>G (COQ6)	NP_872286.2:p.Leu408=