Canonical Allele Identifier: CA390375012

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73958228G>A , CM000676.2:g.73958228G>A GRCh38
NC_000014.8:g.74424931G>A , CM000676.1:g.74424931G>A GRCh37
NC_000014.7:g.73494684G>A NCBI36
NG_032805.1:g.13295G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334571.7:c.563G>A (COQ6) MANE Select ENSP00000333946.2:p.Trp188Ter
ENST00000238709.8:c.560G>A (COQ6) ENSP00000238709.5:p.Trp187Ter
ENST00000334571.6:c.563G>A (COQ6) ENSP00000333946.2:p.Trp188Ter
ENST00000394026.8:c.488G>A (COQ6) ENSP00000377594.4:p.Trp163Ter
ENST00000553462.6:n.411G>A (COQ6)
ENST00000554153.5:c.*168G>A (COQ6) ENSP00000451685.1:n.*168G>A
ENST00000554320.1:c.338G>A (COQ6) ENSP00000451123.1:p.Trp113Ter
ENST00000554341.6:c.*168G>A (COQ6) ENSP00000450736.2:n.*168G>A
ENST00000554920.5:c.481+2300G>A (COQ6) ENSP00000451562.1:n.481+2300G>A
ENST00000555511.5:n.681G>A (COQ6)
ENST00000556300.6:n.597G>A (COQ6)
ENST00000557205.6:n.527G>A (COQ6)
ENST00000557325.5:c.*1302C>T (ENTPD5) ENSP00000451810.1:n.*1302C>T
ENST00000557584.5:c.*168G>A (COQ6) ENSP00000450511.1:n.*168G>A
ENST00000629426.2:c.338G>A (COQ6) ENSP00000486650.1:p.Trp113Ter
NM_182476.2:c.563G>A (COQ6) NP_872282.1:p.Trp188Ter
NM_182480.2:c.488G>A (COQ6) NP_872286.2:p.Trp163Ter
XM_005267716.1:c.398G>A (COQ6) XP_005267773.1:p.Trp133Ter
XM_006720156.1:c.236G>A (COQ6) XP_006720219.1:p.Trp79Ter
XM_011536807.1:c.563G>A (COQ6) XP_011535109.1:p.Trp188Ter
XM_011536808.1:c.338G>A (COQ6) XP_011535110.1:p.Trp113Ter
XM_011536809.1:c.338G>A (COQ6) XP_011535111.1:p.Trp113Ter
XM_011536810.1:c.563G>A (COQ6) XP_011535112.1:p.Trp188Ter
XM_011536811.1:c.73-743G>A (COQ6) XP_011535113.1:n.73-743G>A
XR_943465.1:n.616G>A (COQ6)
XR_943466.1:n.616G>A (COQ6)
NM_001330189.1:c.*1302C>T (ENTPD5) NP_001317118.1:n.*1302C>T
XM_011536807.2:c.563G>A (COQ6) XP_011535109.1:p.Trp188Ter
XM_011536808.2:c.338G>A (COQ6) XP_011535110.1:p.Trp113Ter
XM_011536809.3:c.338G>A (COQ6) XP_011535111.1:p.Trp113Ter
XM_011536810.3:c.563G>A (COQ6) XP_011535112.1:p.Trp188Ter
XM_017021351.2:c.73-743G>A (COQ6) XP_016876840.1:n.73-743G>A
XM_017021352.2:c.-737G>A (COQ6) XP_016876841.1:n.-737G>A
XM_024449619.1:c.-186G>A (COQ6) XP_024305387.1:n.-186G>A
XR_001750342.1:n.527G>A (COQ6)
XR_943465.3:n.593G>A (COQ6)
XR_943466.3:n.593G>A (COQ6)
NM_001330189.2:c.*1302C>T (ENTPD5) NP_001317118.1:n.*1302C>T
NM_182476.3:c.563G>A (COQ6) MANE Select NP_872282.1:p.Trp188Ter
NM_001382258.1:c.1201-2641C>T (ENTPD5) NP_001369187.1:n.1201-2641C>T
NM_001382259.1:c.*1302C>T (ENTPD5) NP_001369188.1:n.*1302C>T
NM_001382260.1:c.*1302C>T (ENTPD5) NP_001369189.1:n.*1302C>T
NM_001382262.1:c.1201-2400C>T (ENTPD5) NP_001369191.1:n.1201-2400C>T
NM_182480.3:c.488G>A (COQ6) NP_872286.2:p.Trp163Ter