Canonical Allele Identifier: CA390374557

Gene: COQ6 ENTPD5

Linked Data

• MyVariant Identifiers: chr14:g.74422586G>A (hg19) ; chr14:g.73955883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73955883G>A , CM000676.2:g.73955883G>A	GRCh38
NC_000014.8:g.74422586G>A , CM000676.1:g.74422586G>A	GRCh37
NC_000014.7:g.73492339G>A	NCBI36
NG_032805.1:g.10950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.436G>A (COQ6) MANE Select	ENSP00000333946.2:p.Asp146Asn
ENST00000238709.8:c.433G>A (COQ6)	ENSP00000238709.5:p.Asp145Asn
ENST00000334571.6:c.436G>A (COQ6)	ENSP00000333946.2:p.Asp146Asn
ENST00000394026.8:c.361G>A (COQ6)	ENSP00000377594.4:p.Asp121Asn
ENST00000553462.6:n.284G>A (COQ6)
ENST00000553922.5:n.856G>A (COQ6)
ENST00000554153.5:c.*41G>A (COQ6)	ENSP00000451685.1:n.*41G>A
ENST00000554193.5:n.459G>A (COQ6)
ENST00000554320.1:c.211G>A (COQ6)	ENSP00000451123.1:p.Asp71Asn
ENST00000554341.6:c.*41G>A (COQ6)	ENSP00000450736.2:n.*41G>A
ENST00000554920.5:c.436G>A (COQ6)	ENSP00000451562.1:p.Asp146Asn
ENST00000555196.5:c.*105G>A (COQ6)	ENSP00000451301.1:n.*105G>A
ENST00000555392.1:n.211G>A (COQ6)
ENST00000555511.5:n.554G>A (COQ6)
ENST00000555552.5:n.459G>A (COQ6)
ENST00000556300.6:n.470G>A (COQ6)
ENST00000557205.6:n.400G>A (COQ6)
ENST00000557584.5:c.*41G>A (COQ6)	ENSP00000450511.1:n.*41G>A
ENST00000629426.2:c.211G>A (COQ6)	ENSP00000486650.1:p.Asp71Asn
NM_182476.2:c.436G>A (COQ6)	NP_872282.1:p.Asp146Asn
NM_182480.2:c.361G>A (COQ6)	NP_872286.2:p.Asp121Asn
XM_005267716.1:c.271G>A (COQ6)	XP_005267773.1:p.Asp91Asn
XM_006720156.1:c.109G>A (COQ6)	XP_006720219.1:p.Asp37Asn
XM_011536807.1:c.436G>A (COQ6)	XP_011535109.1:p.Asp146Asn
XM_011536808.1:c.211G>A (COQ6)	XP_011535110.1:p.Asp71Asn
XM_011536809.1:c.211G>A (COQ6)	XP_011535111.1:p.Asp71Asn
XM_011536810.1:c.436G>A (COQ6)	XP_011535112.1:p.Asp146Asn
XM_011536811.1:c.27G>A (COQ6)	XP_011535113.1:p.Met9Ile
XR_943465.1:n.489G>A (COQ6)
XR_943466.1:n.489G>A (COQ6)
XM_011536807.2:c.436G>A (COQ6)	XP_011535109.1:p.Asp146Asn
XM_011536808.2:c.211G>A (COQ6)	XP_011535110.1:p.Asp71Asn
XM_011536809.3:c.211G>A (COQ6)	XP_011535111.1:p.Asp71Asn
XM_011536810.3:c.436G>A (COQ6)	XP_011535112.1:p.Asp146Asn
XM_017021351.2:c.27G>A (COQ6)	XP_016876840.1:p.Met9Ile
XM_017021352.2:c.-864G>A (COQ6)	XP_016876841.1:n.-864G>A
XM_024449619.1:c.-313G>A (COQ6)	XP_024305387.1:n.-313G>A
XR_001750342.1:n.400G>A (COQ6)
XR_943465.3:n.466G>A (COQ6)
XR_943466.3:n.466G>A (COQ6)
NM_182476.3:c.436G>A (COQ6) MANE Select	NP_872282.1:p.Asp146Asn
NM_001382258.1:c.1201-296C>T (ENTPD5)	NP_001369187.1:n.1201-296C>T
NM_001382262.1:c.1201-55C>T (ENTPD5)	NP_001369191.1:n.1201-55C>T
NM_182480.3:c.361G>A (COQ6)	NP_872286.2:p.Asp121Asn