Canonical Allele Identifier: CA288768

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73961297A>T , CM000676.2:g.73961297A>T GRCh38
NC_000014.8:g.74428000A>T , CM000676.1:g.74428000A>T GRCh37
NC_000014.7:g.73497753A>T NCBI36
NG_032805.1:g.16364A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334571.7:c.1016A>T (COQ6) MANE Select ENSP00000333946.2:p.Asp339Val
ENST00000238709.8:c.1013A>T (COQ6) ENSP00000238709.5:p.Asp338Val
ENST00000334571.6:c.1016A>T (COQ6) ENSP00000333946.2:p.Asp339Val
ENST00000394026.8:c.941A>T (COQ6) ENSP00000377594.4:p.Asp314Val
ENST00000554341.6:c.*621A>T (COQ6) ENSP00000450736.2:n.*621A>T
ENST00000554920.5:c.482-1673A>T (COQ6) ENSP00000451562.1:n.482-1673A>T
ENST00000555829.5:c.478T>A (ENTPD5)
ENST00000556299.1:n.227A>T (COQ6)
ENST00000556588.5:n.2616A>T (COQ6)
ENST00000557325.5:c.1201-1744T>A (ENTPD5) ENSP00000451810.1:n.1201-1744T>A
ENST00000557780.5:n.149A>T (COQ6)
ENST00000629426.2:c.791A>T (COQ6) ENSP00000486650.1:p.Asp264Val
NM_182476.2:c.1016A>T (COQ6) NP_872282.1:p.Asp339Val
NM_182480.2:c.941A>T (COQ6) NP_872286.2:p.Asp314Val
XM_005267716.1:c.851A>T (COQ6) XP_005267773.1:p.Asp284Val
XM_006720156.1:c.689A>T (COQ6) XP_006720219.1:p.Asp230Val
XM_006720325.2:c.1201-1744T>A (ENTPD5) XP_006720388.1:n.1201-1744T>A
XM_011536807.1:c.908A>T (COQ6) XP_011535109.1:p.Asp303Val
XM_011536808.1:c.791A>T (COQ6) XP_011535110.1:p.Asp264Val
XM_011536809.1:c.791A>T (COQ6) XP_011535111.1:p.Asp264Val
XM_011536810.1:c.892-1673A>T (COQ6) XP_011535112.1:n.892-1673A>T
XM_011536811.1:c.476A>T (COQ6) XP_011535113.1:p.Asp159Val
NM_001321984.1:c.*236T>A (ENTPD5) NP_001308913.1:n.*236T>A
NM_001330189.1:c.1201-1744T>A (ENTPD5) NP_001317118.1:n.1201-1744T>A
XM_006720325.3:c.1201-1744T>A (ENTPD5) XP_006720388.1:n.1201-1744T>A
XM_011536807.2:c.908A>T (COQ6) XP_011535109.1:p.Asp303Val
XM_011536808.2:c.791A>T (COQ6) XP_011535110.1:p.Asp264Val
XM_011536809.3:c.791A>T (COQ6) XP_011535111.1:p.Asp264Val
XM_011536810.3:c.892-1673A>T (COQ6) XP_011535112.1:n.892-1673A>T
XM_017021351.2:c.476A>T (COQ6) XP_016876840.1:p.Asp159Val
XM_017021352.2:c.410A>T (COQ6) XP_016876841.1:p.Asp137Val
XM_017021814.1:c.1201-1744T>A (ENTPD5) XP_016877303.1:n.1201-1744T>A
XM_017021817.1:c.1060-1744T>A (ENTPD5) XP_016877306.1:n.1060-1744T>A
XM_024449619.1:c.410A>T (COQ6) XP_024305387.1:p.Asp137Val
XR_001750342.1:n.1170A>T (COQ6)
NM_001321984.2:c.*236T>A (ENTPD5) NP_001308913.1:n.*236T>A
NM_001330189.2:c.1201-1744T>A (ENTPD5) NP_001317118.1:n.1201-1744T>A
NM_182476.3:c.1016A>T (COQ6) MANE Select NP_872282.1:p.Asp339Val
NM_001382258.1:c.1201-5710T>A (ENTPD5) NP_001369187.1:n.1201-5710T>A
NM_001382259.1:c.1201-1744T>A (ENTPD5) NP_001369188.1:n.1201-1744T>A
NM_001382260.1:c.1201-1744T>A (ENTPD5) NP_001369189.1:n.1201-1744T>A
NM_001382262.1:c.1201-5469T>A (ENTPD5) NP_001369191.1:n.1201-5469T>A
NM_182480.3:c.941A>T (COQ6) NP_872286.2:p.Asp314Val