Canonical Allele Identifier: CA263571097

Gene: COQ6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73950785T>C , CM000676.2:g.73950785T>C	GRCh38
NC_000014.8:g.74417488T>C , CM000676.1:g.74417488T>C	GRCh37
NC_000014.7:g.73487241T>C	NCBI36
NG_032805.1:g.5852T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182476.3:c.163+290T>C MANE Select	NP_872282.1:n.163+290T>C
ENST00000334571.7:c.163+290T>C MANE Select	ENSP00000333946.2:n.163+290T>C
NM_182476.2:c.163+290T>C	NP_872282.1:n.163+290T>C
NM_182480.2:c.88+605T>C	NP_872286.2:n.88+605T>C
NM_182480.3:c.88+605T>C	NP_872286.2:n.88+605T>C
ENST00000238709.8:c.160+290T>C	ENSP00000238709.5:n.160+290T>C
ENST00000334571.6:c.163+290T>C	ENSP00000333946.2:n.163+290T>C
ENST00000394026.8:c.88+605T>C	ENSP00000377594.4:n.88+605T>C
ENST00000553462.6:n.70+497T>C
ENST00000553922.5:n.288+188T>C
ENST00000554153.5:c.163+290T>C	ENSP00000451685.1:n.163+290T>C
ENST00000554193.5:n.186+290T>C
ENST00000554217.5:n.186+290T>C
ENST00000554320.1:c.-4+188T>C	ENSP00000451123.1:n.-4+188T>C
ENST00000554341.6:c.88+605T>C	ENSP00000450736.2:n.88+605T>C
ENST00000554920.5:c.163+290T>C	ENSP00000451562.1:n.163+290T>C
ENST00000555196.5:c.-4+188T>C	ENSP00000451301.1:n.-4+188T>C
ENST00000555552.5:n.186+290T>C
ENST00000556300.6:n.197+290T>C
ENST00000557205.6:n.186+290T>C
ENST00000557584.5:c.163+290T>C	ENSP00000450511.1:n.163+290T>C
ENST00000629426.2:c.-4+290T>C	ENSP00000486650.1:n.-4+290T>C
XM_005267716.1:c.57+290T>C	XP_005267773.1:n.57+290T>C
XM_006720156.1:c.-165+188T>C	XP_006720219.1:n.-165+188T>C
XM_011536807.1:c.163+290T>C	XP_011535109.1:n.163+290T>C
XM_011536807.2:c.163+290T>C	XP_011535109.1:n.163+290T>C
XM_011536808.1:c.-4+188T>C	XP_011535110.1:n.-4+188T>C
XM_011536808.2:c.-4+188T>C	XP_011535110.1:n.-4+188T>C
XM_011536809.1:c.-4+605T>C	XP_011535111.1:n.-4+605T>C
XM_011536809.3:c.-4+605T>C	XP_011535111.1:n.-4+605T>C
XM_011536810.1:c.163+290T>C	XP_011535112.1:n.163+290T>C
XM_011536810.3:c.163+290T>C	XP_011535112.1:n.163+290T>C
XM_017021351.2:c.-247+290T>C	XP_016876840.1:n.-247+290T>C
XM_017021352.2:c.-1078+290T>C	XP_016876841.1:n.-1078+290T>C
XR_001750342.1:n.186+290T>C
XR_943465.1:n.216+290T>C
XR_943465.3:n.193+290T>C
XR_943466.1:n.216+290T>C
XR_943466.3:n.193+290T>C