Canonical Allele Identifier: CA2146832883

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73962841A= , CM000676.2:g.73962841A= GRCh38
NC_000014.8:g.74429544A= , CM000676.1:g.74429544A= GRCh37
NC_000014.7:g.73499297A= NCBI36
NG_032805.1:g.17908A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000334571.7:c.1378-129A= (COQ6) MANE Select ENSP00000333946.2:n.1378-129A=
ENST00000238709.8:c.1375-129A= (COQ6) ENSP00000238709.5:n.1375-129A=
ENST00000334571.6:c.1378-129A= (COQ6) ENSP00000333946.2:n.1378-129A=
ENST00000334696.10:c.*4087T= (ENTPD5) ENSP00000335246.6:n.*4087T=
ENST00000394026.8:c.1303-129A= (COQ6) ENSP00000377594.4:n.1303-129A=
ENST00000554341.6:c.*983-135A= (COQ6) ENSP00000450736.2:n.*983-135A=
ENST00000554920.5:c.482-129A= (COQ6) ENSP00000451562.1:n.482-129A=
ENST00000555829.5:c.225-1291T= (ENTPD5)
ENST00000556299.1:n.589-129A= (COQ6)
ENST00000556588.5:n.2978-129A= (COQ6)
ENST00000557325.5:c.1201-3288T= (ENTPD5) ENSP00000451810.1:n.1201-3288T=
ENST00000557780.5:n.344-129A= (COQ6)
ENST00000629426.2:c.1153-129A= (COQ6) ENSP00000486650.1:n.1153-129A=
NM_182476.2:c.1378-129A= (COQ6) NP_872282.1:n.1378-129A=
NM_182480.2:c.1303-129A= (COQ6) NP_872286.2:n.1303-129A=
XM_005267716.1:c.1213-129A= (COQ6) XP_005267773.1:n.1213-129A=
XM_006720156.1:c.1051-129A= (COQ6) XP_006720219.1:n.1051-129A=
XM_006720325.2:c.1201-3288T= (ENTPD5) XP_006720388.1:n.1201-3288T=
XM_011536807.1:c.1270-129A= (COQ6) XP_011535109.1:n.1270-129A=
XM_011536808.1:c.1153-129A= (COQ6) XP_011535110.1:n.1153-129A=
XM_011536809.1:c.1153-129A= (COQ6) XP_011535111.1:n.1153-129A=
XM_011536810.1:c.892-129A= (COQ6) XP_011535112.1:n.892-129A=
XM_011536811.1:c.838-129A= (COQ6) XP_011535113.1:n.838-129A=
NM_001321984.1:c.1201-1291T= (ENTPD5) NP_001308913.1:n.1201-1291T=
NM_001330189.1:c.1201-3288T= (ENTPD5) NP_001317118.1:n.1201-3288T=
XM_006720325.3:c.1201-3288T= (ENTPD5) XP_006720388.1:n.1201-3288T=
XM_011536807.2:c.1270-129A= (COQ6) XP_011535109.1:n.1270-129A=
XM_011536808.2:c.1153-129A= (COQ6) XP_011535110.1:n.1153-129A=
XM_011536809.3:c.1153-129A= (COQ6) XP_011535111.1:n.1153-129A=
XM_011536810.3:c.892-129A= (COQ6) XP_011535112.1:n.892-129A=
XM_017021351.2:c.838-129A= (COQ6) XP_016876840.1:n.838-129A=
XM_017021352.2:c.772-129A= (COQ6) XP_016876841.1:n.772-129A=
XM_017021814.1:c.1201-3288T= (ENTPD5) XP_016877303.1:n.1201-3288T=
XM_017021817.1:c.1060-3288T= (ENTPD5) XP_016877306.1:n.1060-3288T=
XM_024449619.1:c.772-129A= (COQ6) XP_024305387.1:n.772-129A=
XR_001750342.1:n.1532-129A= (COQ6)
NM_001249.4:c.*4087T= (ENTPD5) NP_001240.1:n.*4087T=
NM_001321984.2:c.1201-1291T= (ENTPD5) NP_001308913.1:n.1201-1291T=
NM_001321985.2:c.*4087T= (ENTPD5) NP_001308914.1:n.*4087T=
NM_001321986.2:c.*4087T= (ENTPD5) NP_001308915.1:n.*4087T=
NM_001321987.2:c.*4087T= (ENTPD5) NP_001308916.1:n.*4087T=
NM_001321988.2:c.*4087T= (ENTPD5) NP_001308917.1:n.*4087T=
NM_001330189.2:c.1201-3288T= (ENTPD5) NP_001317118.1:n.1201-3288T=
NM_182476.3:c.1378-129A= (COQ6) MANE Select NP_872282.1:n.1378-129A=
NM_001382258.1:c.1200+7169T= (ENTPD5) NP_001369187.1:n.1200+7169T=
NM_001382259.1:c.1201-3288T= (ENTPD5) NP_001369188.1:n.1201-3288T=
NM_001382260.1:c.1201-3288T= (ENTPD5) NP_001369189.1:n.1201-3288T=
NM_001382262.1:c.1201-7013T= (ENTPD5) NP_001369191.1:n.1201-7013T=
NM_182480.3:c.1303-129A= (COQ6) NP_872286.2:n.1303-129A=