|
ENST00000683741.1:c.682G>C
(UBA5)
|
ENSP00000507396.1:p.Glu228Gln
|
|
|
ENST00000356232.10:c.511G>C
(UBA5)
MANE Select
|
ENSP00000348565.4:p.Glu171Gln
|
|
|
ENST00000264991.8:c.343G>C
(UBA5)
|
ENSP00000264991.4:p.Glu115Gln
|
|
|
ENST00000356232.8:c.511G>C
(UBA5)
|
ENSP00000348565.4:p.Glu171Gln
|
|
|
ENST00000464068.5:c.241G>C
(UBA5)
|
ENSP00000420055.1:p.Glu81Gln
|
|
|
ENST00000468227.5:n.1774G>C
(UBA5)
|
|
|
|
ENST00000469158.1:n.300G>C
(UBA5)
|
|
|
|
ENST00000471702.2:c.*1980+10933C>G
(NPHP3-ACAD11)
|
ENSP00000419763.1:n.*1980+10933C>G
|
|
|
ENST00000473651.5:c.511G>C
(UBA5)
|
ENSP00000424984.1:p.Glu171Gln
|
|
|
ENST00000493720.6:c.511G>C
(UBA5)
|
ENSP00000417879.2:p.Glu171Gln
|
|
|
ENST00000494238.6:c.343G>C
(UBA5)
|
ENSP00000418807.2:p.Glu115Gln
|
|
|
ENST00000505777.5:c.*180G>C
(UBA5)
|
ENSP00000427233.1:n.*180G>C
|
|
|
ENST00000632629.1:c.636+10933C>G
(NPHP3-ACAD11)
|
|
|
|
NM_024818.3:c.511G>C
(UBA5)
|
NP_079094.1:p.Glu171Gln
|
|
|
NM_198329.2:c.343G>C
(UBA5)
|
NP_938143.1:p.Glu115Gln
|
|
|
NR_037804.1:n.3995+10933C>G
(NPHP3-ACAD11)
|
|
|
|
XM_006713752.2:c.175G>C
(UBA5)
|
XP_006713815.1:p.Glu59Gln
|
|
|
XM_011513183.1:c.370G>C
(UBA5)
|
XP_011511485.1:p.Glu124Gln
|
|
|
XM_011513184.1:c.343G>C
(UBA5)
|
XP_011511486.1:p.Glu115Gln
|
|
|
XM_011513185.1:c.241G>C
(UBA5)
|
XP_011511487.1:p.Glu81Gln
|
|
|
NM_001320210.1:c.343G>C
(UBA5)
|
NP_001307139.1:p.Glu115Gln
|
|
|
NM_001321238.1:c.241G>C
(UBA5)
|
NP_001308167.1:p.Glu81Gln
|
|
|
NM_001321239.1:c.175G>C
(UBA5)
|
NP_001308168.1:p.Glu59Gln
|
|
|
NM_024818.4:c.511G>C
(UBA5)
|
NP_079094.1:p.Glu171Gln
|
|
|
NM_198329.3:c.343G>C
(UBA5)
|
NP_938143.1:p.Glu115Gln
|
|
|
XR_001740272.1:n.1113G>C
(UBA5)
|
|
|
|
NM_024818.5:c.511G>C
(UBA5)
|
NP_079094.1:p.Glu171Gln
|
|
|
NM_001320210.2:c.343G>C
(UBA5)
|
NP_001307139.1:p.Glu115Gln
|
|
|
NM_001321238.2:c.241G>C
(UBA5)
|
NP_001308167.1:p.Glu81Gln
|
|
|
NM_024818.6:c.511G>C
(UBA5)
MANE Select
|
NP_079094.1:p.Glu171Gln
|
|
|
NM_198329.4:c.343G>C
(UBA5)
|
NP_938143.1:p.Glu115Gln
|
|
