Canonical Allele Identifier: CA487154157

Gene: COQ6 ENTPD5

Linked Data

• MyVariant Identifiers: chr14:g.74428573C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73961870C>A , CM000676.2:g.73961870C>A	GRCh38
NC_000014.8:g.74428573C>A , CM000676.1:g.74428573C>A	GRCh37
NC_000014.7:g.73498326C>A	NCBI36
NG_032805.1:g.16937C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334571.7:c.1344C>A (COQ6) MANE Select	ENSP00000333946.2:p.Gly448=
ENST00000238709.8:c.1341C>A (COQ6)	ENSP00000238709.5:p.Gly447=
ENST00000334571.6:c.1344C>A (COQ6)	ENSP00000333946.2:p.Gly448=
ENST00000394026.8:c.1269C>A (COQ6)	ENSP00000377594.4:p.Gly423=
ENST00000554341.6:c.*949C>A (COQ6)	ENSP00000450736.2:n.*949C>A
ENST00000554920.5:c.482-1100C>A (COQ6)	ENSP00000451562.1:n.482-1100C>A
ENST00000555829.5:c.225-320G>T (ENTPD5)
ENST00000556299.1:n.555C>A (COQ6)
ENST00000556588.5:n.2944C>A (COQ6)
ENST00000557325.5:c.1201-2317G>T (ENTPD5)	ENSP00000451810.1:n.1201-2317G>T
ENST00000557780.5:n.343+300C>A (COQ6)
ENST00000629426.2:c.1119C>A (COQ6)	ENSP00000486650.1:p.Gly373=
NM_182476.2:c.1344C>A (COQ6)	NP_872282.1:p.Gly448=
NM_182480.2:c.1269C>A (COQ6)	NP_872286.2:p.Gly423=
XM_005267716.1:c.1179C>A (COQ6)	XP_005267773.1:p.Gly393=
XM_006720156.1:c.1017C>A (COQ6)	XP_006720219.1:p.Gly339=
XM_006720325.2:c.1201-2317G>T (ENTPD5)	XP_006720388.1:n.1201-2317G>T
XM_011536807.1:c.1236C>A (COQ6)	XP_011535109.1:p.Gly412=
XM_011536808.1:c.1119C>A (COQ6)	XP_011535110.1:p.Gly373=
XM_011536809.1:c.1119C>A (COQ6)	XP_011535111.1:p.Gly373=
XM_011536810.1:c.892-1100C>A (COQ6)	XP_011535112.1:n.892-1100C>A
XM_011536811.1:c.804C>A (COQ6)	XP_011535113.1:p.Gly268=
NM_001321984.1:c.1201-320G>T (ENTPD5)	NP_001308913.1:n.1201-320G>T
NM_001330189.1:c.1201-2317G>T (ENTPD5)	NP_001317118.1:n.1201-2317G>T
XM_006720325.3:c.1201-2317G>T (ENTPD5)	XP_006720388.1:n.1201-2317G>T
XM_011536807.2:c.1236C>A (COQ6)	XP_011535109.1:p.Gly412=
XM_011536808.2:c.1119C>A (COQ6)	XP_011535110.1:p.Gly373=
XM_011536809.3:c.1119C>A (COQ6)	XP_011535111.1:p.Gly373=
XM_011536810.3:c.892-1100C>A (COQ6)	XP_011535112.1:n.892-1100C>A
XM_017021351.2:c.804C>A (COQ6)	XP_016876840.1:p.Gly268=
XM_017021352.2:c.738C>A (COQ6)	XP_016876841.1:p.Gly246=
XM_017021814.1:c.1201-2317G>T (ENTPD5)	XP_016877303.1:n.1201-2317G>T
XM_017021817.1:c.1060-2317G>T (ENTPD5)	XP_016877306.1:n.1060-2317G>T
XM_024449619.1:c.738C>A (COQ6)	XP_024305387.1:p.Gly246=
XR_001750342.1:n.1498C>A (COQ6)
NM_001321984.2:c.1201-320G>T (ENTPD5)	NP_001308913.1:n.1201-320G>T
NM_001330189.2:c.1201-2317G>T (ENTPD5)	NP_001317118.1:n.1201-2317G>T
NM_182476.3:c.1344C>A (COQ6) MANE Select	NP_872282.1:p.Gly448=
NM_001382258.1:c.1201-6283G>T (ENTPD5)	NP_001369187.1:n.1201-6283G>T
NM_001382259.1:c.1201-2317G>T (ENTPD5)	NP_001369188.1:n.1201-2317G>T
NM_001382260.1:c.1201-2317G>T (ENTPD5)	NP_001369189.1:n.1201-2317G>T
NM_001382262.1:c.1201-6042G>T (ENTPD5)	NP_001369191.1:n.1201-6042G>T
NM_182480.3:c.1269C>A (COQ6)	NP_872286.2:p.Gly423=