|
ENST00000683741.1:c.676T>G
(UBA5)
|
ENSP00000507396.1:p.Leu226Val
|
|
|
ENST00000356232.10:c.505T>G
(UBA5)
MANE Select
|
ENSP00000348565.4:p.Leu169Val
|
|
|
ENST00000264991.8:c.337T>G
(UBA5)
|
ENSP00000264991.4:p.Leu113Val
|
|
|
ENST00000356232.8:c.505T>G
(UBA5)
|
ENSP00000348565.4:p.Leu169Val
|
|
|
ENST00000464068.5:c.235T>G
(UBA5)
|
ENSP00000420055.1:p.Leu79Val
|
|
|
ENST00000468227.5:n.1768T>G
(UBA5)
|
|
|
|
ENST00000469158.1:n.294T>G
(UBA5)
|
|
|
|
ENST00000471702.2:c.*1980+10939A>C
(NPHP3-ACAD11)
|
ENSP00000419763.1:n.*1980+10939A>C
|
|
|
ENST00000473651.5:c.505T>G
(UBA5)
|
ENSP00000424984.1:p.Leu169Val
|
|
|
ENST00000493720.6:c.505T>G
(UBA5)
|
ENSP00000417879.2:p.Leu169Val
|
|
|
ENST00000494238.6:c.337T>G
(UBA5)
|
ENSP00000418807.2:p.Leu113Val
|
|
|
ENST00000505777.5:c.*174T>G
(UBA5)
|
ENSP00000427233.1:n.*174T>G
|
|
|
ENST00000632629.1:c.636+10939A>C
(NPHP3-ACAD11)
|
|
|
|
NM_024818.3:c.505T>G
(UBA5)
|
NP_079094.1:p.Leu169Val
|
|
|
NM_198329.2:c.337T>G
(UBA5)
|
NP_938143.1:p.Leu113Val
|
|
|
NR_037804.1:n.3995+10939A>C
(NPHP3-ACAD11)
|
|
|
|
XM_006713752.2:c.169T>G
(UBA5)
|
XP_006713815.1:p.Leu57Val
|
|
|
XM_011513183.1:c.364T>G
(UBA5)
|
XP_011511485.1:p.Leu122Val
|
|
|
XM_011513184.1:c.337T>G
(UBA5)
|
XP_011511486.1:p.Leu113Val
|
|
|
XM_011513185.1:c.235T>G
(UBA5)
|
XP_011511487.1:p.Leu79Val
|
|
|
NM_001320210.1:c.337T>G
(UBA5)
|
NP_001307139.1:p.Leu113Val
|
|
|
NM_001321238.1:c.235T>G
(UBA5)
|
NP_001308167.1:p.Leu79Val
|
|
|
NM_001321239.1:c.169T>G
(UBA5)
|
NP_001308168.1:p.Leu57Val
|
|
|
NM_024818.4:c.505T>G
(UBA5)
|
NP_079094.1:p.Leu169Val
|
|
|
NM_198329.3:c.337T>G
(UBA5)
|
NP_938143.1:p.Leu113Val
|
|
|
XR_001740272.1:n.1107T>G
(UBA5)
|
|
|
|
NM_024818.5:c.505T>G
(UBA5)
|
NP_079094.1:p.Leu169Val
|
|
|
NM_001320210.2:c.337T>G
(UBA5)
|
NP_001307139.1:p.Leu113Val
|
|
|
NM_001321238.2:c.235T>G
(UBA5)
|
NP_001308167.1:p.Leu79Val
|
|
|
NM_024818.6:c.505T>G
(UBA5)
MANE Select
|
NP_079094.1:p.Leu169Val
|
|
|
NM_198329.4:c.337T>G
(UBA5)
|
NP_938143.1:p.Leu113Val
|
|
