Canonical Allele Identifier: CA16044190

Gene: COQ6 ENTPD5

Linked Data

• ClinVar Variation Id: 375342
• ClinVar RCV Id: RCV000416398
• dbSNP Id: rs1057519350
• MyVariant Identifiers: chr14:g.74425907G>A (hg19) ; chr14:g.73959204G>A (hg38)
• PubMed: PMID:21540551 ; PMID:28125198

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73959204G>A , CM000676.2:g.73959204G>A	GRCh38
NC_000014.8:g.74425907G>A , CM000676.1:g.74425907G>A	GRCh37
NC_000014.7:g.73495660G>A	NCBI36
NG_032805.1:g.14271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.763G>A (COQ6) MANE Select	ENSP00000333946.2:p.Gly255Arg
ENST00000238709.8:c.760G>A (COQ6)	ENSP00000238709.5:p.Gly254Arg
ENST00000334571.6:c.763G>A (COQ6)	ENSP00000333946.2:p.Gly255Arg
ENST00000394026.8:c.688G>A (COQ6)	ENSP00000377594.4:p.Gly230Arg
ENST00000553448.1:n.215G>A (COQ6)
ENST00000553462.6:n.1304G>A (COQ6)
ENST00000554320.1:c.538G>A (COQ6)	ENSP00000451123.1:p.Gly180Arg
ENST00000554341.6:c.*368G>A (COQ6)	ENSP00000450736.2:n.*368G>A
ENST00000554920.5:c.481+3276G>A (COQ6)	ENSP00000451562.1:n.481+3276G>A
ENST00000555511.5:n.881G>A (COQ6)
ENST00000556588.5:n.713G>A (COQ6)
ENST00000557325.5:c.*326C>T (ENTPD5)	ENSP00000451810.1:n.*326C>T
ENST00000557584.5:c.*368G>A (COQ6)	ENSP00000450511.1:n.*368G>A
ENST00000629426.2:c.538G>A (COQ6)	ENSP00000486650.1:p.Gly180Arg
NM_182476.2:c.763G>A (COQ6)	NP_872282.1:p.Gly255Arg
NM_182480.2:c.688G>A (COQ6)	NP_872286.2:p.Gly230Arg
XM_005267716.1:c.598G>A (COQ6)	XP_005267773.1:p.Gly200Arg
XM_006720156.1:c.436G>A (COQ6)	XP_006720219.1:p.Gly146Arg
XM_011536807.1:c.763G>A (COQ6)	XP_011535109.1:p.Gly255Arg
XM_011536808.1:c.538G>A (COQ6)	XP_011535110.1:p.Gly180Arg
XM_011536809.1:c.538G>A (COQ6)	XP_011535111.1:p.Gly180Arg
XM_011536810.1:c.763G>A (COQ6)	XP_011535112.1:p.Gly255Arg
XM_011536811.1:c.223G>A (COQ6)	XP_011535113.1:p.Gly75Arg
XR_943465.1:n.816G>A (COQ6)
XR_943466.1:n.816G>A (COQ6)
NM_001330189.1:c.*326C>T (ENTPD5)	NP_001317118.1:n.*326C>T
XM_011536807.2:c.763G>A (COQ6)	XP_011535109.1:p.Gly255Arg
XM_011536808.2:c.538G>A (COQ6)	XP_011535110.1:p.Gly180Arg
XM_011536809.3:c.538G>A (COQ6)	XP_011535111.1:p.Gly180Arg
XM_011536810.3:c.763G>A (COQ6)	XP_011535112.1:p.Gly255Arg
XM_017021351.2:c.223G>A (COQ6)	XP_016876840.1:p.Gly75Arg
XM_017021352.2:c.157G>A (COQ6)	XP_016876841.1:p.Gly53Arg
XM_024449619.1:c.157G>A (COQ6)	XP_024305387.1:p.Gly53Arg
XR_001750342.1:n.727G>A (COQ6)
XR_943465.3:n.793G>A (COQ6)
XR_943466.3:n.793G>A (COQ6)
NM_001330189.2:c.*326C>T (ENTPD5)	NP_001317118.1:n.*326C>T
NM_182476.3:c.763G>A (COQ6) MANE Select	NP_872282.1:p.Gly255Arg
NM_001382258.1:c.1201-3617C>T (ENTPD5)	NP_001369187.1:n.1201-3617C>T
NM_001382259.1:c.*326C>T (ENTPD5)	NP_001369188.1:n.*326C>T
NM_001382260.1:c.*326C>T (ENTPD5)	NP_001369189.1:n.*326C>T
NM_001382262.1:c.1201-3376C>T (ENTPD5)	NP_001369191.1:n.1201-3376C>T
NM_182480.3:c.688G>A (COQ6)	NP_872286.2:p.Gly230Arg