Canonical Allele Identifier: CA7264133

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73955564C>T , CM000676.2:g.73955564C>T GRCh38
NC_000014.8:g.74422267C>T , CM000676.1:g.74422267C>T GRCh37
NC_000014.7:g.73492020C>T NCBI36
NG_032805.1:g.10631C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182476.3:c.357+55C>T (COQ6) MANE Select NP_872282.1:n.357+55C>T
ENST00000334571.7:c.357+55C>T (COQ6) MANE Select ENSP00000333946.2:n.357+55C>T
NM_001382258.1:c.1224G>A (ENTPD5) NP_001369187.1:p.Pro408=
NM_001382262.1:c.*256G>A (ENTPD5) NP_001369191.1:n.*256G>A
NM_182476.2:c.357+55C>T (COQ6) NP_872282.1:n.357+55C>T
NM_182480.2:c.282+55C>T (COQ6) NP_872286.2:n.282+55C>T
NM_182480.3:c.282+55C>T (COQ6) NP_872286.2:n.282+55C>T
ENST00000238709.8:c.354+55C>T (COQ6) ENSP00000238709.5:n.354+55C>T
ENST00000334571.6:c.357+55C>T (COQ6) ENSP00000333946.2:n.357+55C>T
ENST00000394026.8:c.282+55C>T (COQ6) ENSP00000377594.4:n.282+55C>T
ENST00000553462.6:n.206-241C>T (COQ6)
ENST00000553922.5:n.537C>T (COQ6)
ENST00000554153.5:c.299-241C>T (COQ6) ENSP00000451685.1:n.299-241C>T
ENST00000554193.5:n.380+55C>T (COQ6)
ENST00000554320.1:c.133-241C>T (COQ6) ENSP00000451123.1:n.133-241C>T
ENST00000554341.6:c.224-241C>T (COQ6) ENSP00000450736.2:n.224-241C>T
ENST00000554920.5:c.357+55C>T (COQ6) ENSP00000451562.1:n.357+55C>T
ENST00000555196.5:c.*26+55C>T (COQ6) ENSP00000451301.1:n.*26+55C>T
ENST00000555392.1:n.133-241C>T (COQ6)
ENST00000555511.5:n.235C>T (COQ6)
ENST00000555552.5:n.380+55C>T (COQ6)
ENST00000556300.6:n.391+55C>T (COQ6)
ENST00000557205.6:n.322-241C>T (COQ6)
ENST00000557584.5:c.299-241C>T (COQ6) ENSP00000450511.1:n.299-241C>T
ENST00000629426.2:c.133-241C>T (COQ6) ENSP00000486650.1:n.133-241C>T
XM_005267716.1:c.193-241C>T (COQ6) XP_005267773.1:n.193-241C>T
XM_006720156.1:c.30+55C>T (COQ6) XP_006720219.1:n.30+55C>T
XM_011536807.1:c.357+55C>T (COQ6) XP_011535109.1:n.357+55C>T
XM_011536807.2:c.357+55C>T (COQ6) XP_011535109.1:n.357+55C>T
XM_011536808.1:c.133-241C>T (COQ6) XP_011535110.1:n.133-241C>T
XM_011536808.2:c.133-241C>T (COQ6) XP_011535110.1:n.133-241C>T
XM_011536809.1:c.133-241C>T (COQ6) XP_011535111.1:n.133-241C>T
XM_011536809.3:c.133-241C>T (COQ6) XP_011535111.1:n.133-241C>T
XM_011536810.1:c.357+55C>T (COQ6) XP_011535112.1:n.357+55C>T
XM_011536810.3:c.357+55C>T (COQ6) XP_011535112.1:n.357+55C>T
XM_017021351.2:c.-53+55C>T (COQ6) XP_016876840.1:n.-53+55C>T
XM_017021352.2:c.-942-241C>T (COQ6) XP_016876841.1:n.-942-241C>T
XM_024449619.1:c.-632C>T (COQ6) XP_024305387.1:n.-632C>T
XR_001750342.1:n.322-241C>T (COQ6)
XR_943465.1:n.410+55C>T (COQ6)
XR_943465.3:n.387+55C>T (COQ6)
XR_943466.1:n.410+55C>T (COQ6)
XR_943466.3:n.387+55C>T (COQ6)