Canonical Allele Identifier: CA658798226

Gene: COQ6 ENTPD5

Linked Data

• ClinVar Variation Id: 515229
• ClinVar RCV Id: RCV000608664
• dbSNP Id: rs1555358288
• MyVariant Identifiers: chr14:g.74425801T>C (hg19) ; chr14:g.73959098T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73959098T>C , CM000676.2:g.73959098T>C	GRCh38
NC_000014.8:g.74425801T>C , CM000676.1:g.74425801T>C	GRCh37
NC_000014.7:g.73495554T>C	NCBI36
NG_032805.1:g.14165T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.720+20T>C (COQ6) MANE Select	ENSP00000333946.2:n.720+20T>C
ENST00000238709.8:c.717+20T>C (COQ6)	ENSP00000238709.5:n.717+20T>C
ENST00000334571.6:c.720+20T>C (COQ6)	ENSP00000333946.2:n.720+20T>C
ENST00000394026.8:c.645+20T>C (COQ6)	ENSP00000377594.4:n.645+20T>C
ENST00000553448.1:n.172+20T>C (COQ6)
ENST00000553462.6:n.1261+20T>C (COQ6)
ENST00000554320.1:c.495+20T>C (COQ6)	ENSP00000451123.1:n.495+20T>C
ENST00000554341.6:c.*325+20T>C (COQ6)	ENSP00000450736.2:n.*325+20T>C
ENST00000554920.5:c.481+3170T>C (COQ6)	ENSP00000451562.1:n.481+3170T>C
ENST00000555511.5:n.838+20T>C (COQ6)
ENST00000556588.5:n.607T>C (COQ6)
ENST00000557325.5:c.*432A>G (ENTPD5)	ENSP00000451810.1:n.*432A>G
ENST00000557584.5:c.*325+20T>C (COQ6)	ENSP00000450511.1:n.*325+20T>C
ENST00000629426.2:c.495+20T>C (COQ6)	ENSP00000486650.1:n.495+20T>C
NM_182476.2:c.720+20T>C (COQ6)	NP_872282.1:n.720+20T>C
NM_182480.2:c.645+20T>C (COQ6)	NP_872286.2:n.645+20T>C
XM_005267716.1:c.555+20T>C (COQ6)	XP_005267773.1:n.555+20T>C
XM_006720156.1:c.393+20T>C (COQ6)	XP_006720219.1:n.393+20T>C
XM_011536807.1:c.720+20T>C (COQ6)	XP_011535109.1:n.720+20T>C
XM_011536808.1:c.495+20T>C (COQ6)	XP_011535110.1:n.495+20T>C
XM_011536809.1:c.495+20T>C (COQ6)	XP_011535111.1:n.495+20T>C
XM_011536810.1:c.720+20T>C (COQ6)	XP_011535112.1:n.720+20T>C
XM_011536811.1:c.180+20T>C (COQ6)	XP_011535113.1:n.180+20T>C
XR_943465.1:n.773+20T>C (COQ6)
XR_943466.1:n.773+20T>C (COQ6)
NM_001330189.1:c.*432A>G (ENTPD5)	NP_001317118.1:n.*432A>G
XM_011536807.2:c.720+20T>C (COQ6)	XP_011535109.1:n.720+20T>C
XM_011536808.2:c.495+20T>C (COQ6)	XP_011535110.1:n.495+20T>C
XM_011536809.3:c.495+20T>C (COQ6)	XP_011535111.1:n.495+20T>C
XM_011536810.3:c.720+20T>C (COQ6)	XP_011535112.1:n.720+20T>C
XM_017021351.2:c.180+20T>C (COQ6)	XP_016876840.1:n.180+20T>C
XM_017021352.2:c.114+20T>C (COQ6)	XP_016876841.1:n.114+20T>C
XM_024449619.1:c.114+20T>C (COQ6)	XP_024305387.1:n.114+20T>C
XR_001750342.1:n.684+20T>C (COQ6)
XR_943465.3:n.750+20T>C (COQ6)
XR_943466.3:n.750+20T>C (COQ6)
NM_001330189.2:c.*432A>G (ENTPD5)	NP_001317118.1:n.*432A>G
NM_182476.3:c.720+20T>C (COQ6) MANE Select	NP_872282.1:n.720+20T>C
NM_001382258.1:c.1201-3511A>G (ENTPD5)	NP_001369187.1:n.1201-3511A>G
NM_001382259.1:c.*432A>G (ENTPD5)	NP_001369188.1:n.*432A>G
NM_001382260.1:c.*432A>G (ENTPD5)	NP_001369189.1:n.*432A>G
NM_001382262.1:c.1201-3270A>G (ENTPD5)	NP_001369191.1:n.1201-3270A>G
NM_182480.3:c.645+20T>C (COQ6)	NP_872286.2:n.645+20T>C