Canonical Allele Identifier: CA390372839

Gene: COQ6 FAM161B

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73950337C>A , CM000676.2:g.73950337C>A	GRCh38
NC_000014.8:g.74417040C>A , CM000676.1:g.74417040C>A	GRCh37
NC_000014.7:g.73486793C>A	NCBI36
NG_032805.1:g.5404C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.5C>A (COQ6) MANE Select	ENSP00000333946.2:p.Ala2Glu
ENST00000651776.1:c.-122G>T (FAM161B)	ENSP00000499021.1:n.-122G>T
ENST00000238709.8:c.5C>A (COQ6)	ENSP00000238709.5:p.Ala2Glu
ENST00000286544.3:c.-122G>T (FAM161B)	ENSP00000286544.3:n.-122G>T
ENST00000334571.6:c.5C>A (COQ6)	ENSP00000333946.2:p.Ala2Glu
ENST00000394026.8:c.88+157C>A (COQ6)	ENSP00000377594.4:n.88+157C>A
ENST00000553462.6:n.70+49C>A (COQ6)
ENST00000553922.5:n.28C>A (COQ6)
ENST00000554153.5:c.5C>A (COQ6)	ENSP00000451685.1:p.Ala2Glu
ENST00000554193.5:n.28C>A (COQ6)
ENST00000554217.5:n.28C>A (COQ6)
ENST00000554341.6:c.88+157C>A (COQ6)	ENSP00000450736.2:n.88+157C>A
ENST00000554920.5:c.5C>A (COQ6)	ENSP00000451562.1:p.Ala2Glu
ENST00000555552.5:n.28C>A (COQ6)
ENST00000556300.6:n.39C>A (COQ6)
ENST00000557205.6:n.28C>A (COQ6)
ENST00000557584.5:c.5C>A (COQ6)	ENSP00000450511.1:p.Ala2Glu
ENST00000629426.2:c.-162C>A (COQ6)	ENSP00000486650.1:n.-162C>A
NM_152445.2:c.-122G>T (FAM161B)	NP_689658.2:n.-122G>T
NM_182476.2:c.5C>A (COQ6)	NP_872282.1:p.Ala2Glu
NM_182480.2:c.88+157C>A (COQ6)	NP_872286.2:n.88+157C>A
XM_005267716.1:c.-102C>A (COQ6)	XP_005267773.1:n.-102C>A
XM_006720156.1:c.-425C>A (COQ6)	XP_006720219.1:n.-425C>A
XM_011536807.1:c.5C>A (COQ6)	XP_011535109.1:p.Ala2Glu
XM_011536809.1:c.-4+157C>A (COQ6)	XP_011535111.1:n.-4+157C>A
XM_011536810.1:c.5C>A (COQ6)	XP_011535112.1:p.Ala2Glu
XR_943465.1:n.58C>A (COQ6)
XR_943466.1:n.58C>A (COQ6)
XM_011536807.2:c.5C>A (COQ6)	XP_011535109.1:p.Ala2Glu
XM_011536809.3:c.-4+157C>A (COQ6)	XP_011535111.1:n.-4+157C>A
XM_011536810.3:c.5C>A (COQ6)	XP_011535112.1:p.Ala2Glu
XM_017021352.2:c.-1236C>A (COQ6)	XP_016876841.1:n.-1236C>A
XR_001750342.1:n.28C>A (COQ6)
XR_943465.3:n.35C>A (COQ6)
XR_943466.3:n.35C>A (COQ6)
NM_182476.3:c.5C>A (COQ6) MANE Select	NP_872282.1:p.Ala2Glu
NM_182480.3:c.88+157C>A (COQ6)	NP_872286.2:n.88+157C>A