Canonical Allele Identifier: CA7264356

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73959501G>T , CM000676.2:g.73959501G>T GRCh38
NC_000014.8:g.74426204G>T , CM000676.1:g.74426204G>T GRCh37
NC_000014.7:g.73495957G>T NCBI36
NG_032805.1:g.14568G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334571.7:c.870G>T (COQ6) MANE Select ENSP00000333946.2:p.Val290=
ENST00000238709.8:c.867G>T (COQ6) ENSP00000238709.5:p.Val289=
ENST00000334571.6:c.870G>T (COQ6) ENSP00000333946.2:p.Val290=
ENST00000394026.8:c.795G>T (COQ6) ENSP00000377594.4:p.Val265=
ENST00000553448.1:n.322G>T (COQ6)
ENST00000554320.1:c.645G>T (COQ6) ENSP00000451123.1:p.Val215=
ENST00000554341.6:c.*475G>T (COQ6) ENSP00000450736.2:n.*475G>T
ENST00000554920.5:c.482-3469G>T (COQ6) ENSP00000451562.1:n.482-3469G>T
ENST00000555511.5:n.988G>T (COQ6)
ENST00000556588.5:n.820G>T (COQ6)
ENST00000557325.5:c.*29C>A (ENTPD5) ENSP00000451810.1:n.*29C>A
ENST00000557780.5:n.3G>T (COQ6)
ENST00000629426.2:c.645G>T (COQ6) ENSP00000486650.1:p.Val215=
NM_182476.2:c.870G>T (COQ6) NP_872282.1:p.Val290=
NM_182480.2:c.795G>T (COQ6) NP_872286.2:p.Val265=
XM_005267716.1:c.705G>T (COQ6) XP_005267773.1:p.Val235=
XM_006720156.1:c.543G>T (COQ6) XP_006720219.1:p.Val181=
XM_006720325.2:c.*29C>A (ENTPD5) XP_006720388.1:n.*29C>A
XM_011536807.1:c.783+277G>T (COQ6) XP_011535109.1:n.783+277G>T
XM_011536808.1:c.645G>T (COQ6) XP_011535110.1:p.Val215=
XM_011536809.1:c.645G>T (COQ6) XP_011535111.1:p.Val215=
XM_011536810.1:c.870G>T (COQ6) XP_011535112.1:p.Val290=
XM_011536811.1:c.330G>T (COQ6) XP_011535113.1:p.Val110=
XR_943465.1:n.923G>T (COQ6)
XR_943466.1:n.923G>T (COQ6)
NM_001330189.1:c.*29C>A (ENTPD5) NP_001317118.1:n.*29C>A
XM_006720325.3:c.*29C>A (ENTPD5) XP_006720388.1:n.*29C>A
XM_011536807.2:c.783+277G>T (COQ6) XP_011535109.1:n.783+277G>T
XM_011536808.2:c.645G>T (COQ6) XP_011535110.1:p.Val215=
XM_011536809.3:c.645G>T (COQ6) XP_011535111.1:p.Val215=
XM_011536810.3:c.870G>T (COQ6) XP_011535112.1:p.Val290=
XM_017021351.2:c.330G>T (COQ6) XP_016876840.1:p.Val110=
XM_017021352.2:c.264G>T (COQ6) XP_016876841.1:p.Val88=
XM_017021814.1:c.*29C>A (ENTPD5) XP_016877303.1:n.*29C>A
XM_017021817.1:c.*29C>A (ENTPD5) XP_016877306.1:n.*29C>A
XM_024449619.1:c.264G>T (COQ6) XP_024305387.1:p.Val88=
XR_001750342.1:n.1024G>T (COQ6)
XR_943465.3:n.900G>T (COQ6)
XR_943466.3:n.900G>T (COQ6)
NM_001330189.2:c.*29C>A (ENTPD5) NP_001317118.1:n.*29C>A
NM_182476.3:c.870G>T (COQ6) MANE Select NP_872282.1:p.Val290=
NM_001382258.1:c.1201-3914C>A (ENTPD5) NP_001369187.1:n.1201-3914C>A
NM_001382259.1:c.*29C>A (ENTPD5) NP_001369188.1:n.*29C>A
NM_001382260.1:c.*29C>A (ENTPD5) NP_001369189.1:n.*29C>A
NM_001382262.1:c.1201-3673C>A (ENTPD5) NP_001369191.1:n.1201-3673C>A
NM_182480.3:c.795G>T (COQ6) NP_872286.2:p.Val265=