Canonical Allele Identifier: CA1402639868

Gene: UBA5 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675630A= , CM000665.2:g.132675630A=	GRCh38
NC_000003.11:g.132394474A= , CM000665.1:g.132394474A=	GRCh37
NC_000003.10:g.133877164A=	NCBI36
NG_052968.1:g.26185A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1145A= (UBA5)	ENSP00000507396.1:p.Gln382=
ENST00000356232.10:c.974A= (UBA5) MANE Select	ENSP00000348565.4:p.Gln325=
ENST00000264991.8:c.806A= (UBA5)	ENSP00000264991.4:p.Gln269=
ENST00000356232.8:c.974A= (UBA5)	ENSP00000348565.4:p.Gln325=
ENST00000468227.5:n.2405A= (UBA5)
ENST00000471702.2:c.*1980+6284T= (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+6284T=
ENST00000473651.5:c.974A= (UBA5)	ENSP00000424984.1:p.Gln325=
ENST00000493720.6:c.974A= (UBA5)	ENSP00000417879.2:p.Gln325=
ENST00000494112.1:n.249A= (UBA5)
ENST00000494238.6:c.806A= (UBA5)	ENSP00000418807.2:p.Gln269=
ENST00000632629.1:c.636+6284T= (NPHP3-ACAD11)
NM_024818.3:c.974A= (UBA5)	NP_079094.1:p.Gln325=
NM_198329.2:c.806A= (UBA5)	NP_938143.1:p.Gln269=
NR_037804.1:n.3995+6284T= (NPHP3-ACAD11)
XM_006713752.2:c.638A= (UBA5)	XP_006713815.1:p.Gln213=
XM_011513183.1:c.833A= (UBA5)	XP_011511485.1:p.Gln278=
XM_011513184.1:c.806A= (UBA5)	XP_011511486.1:p.Gln269=
XM_011513185.1:c.704A= (UBA5)	XP_011511487.1:p.Gln235=
NM_001320210.1:c.806A= (UBA5)	NP_001307139.1:p.Gln269=
NM_001321238.1:c.704A= (UBA5)	NP_001308167.1:p.Gln235=
NM_001321239.1:c.638A= (UBA5)	NP_001308168.1:p.Gln213=
NM_024818.4:c.974A= (UBA5)	NP_079094.1:p.Gln325=
NM_198329.3:c.806A= (UBA5)	NP_938143.1:p.Gln269=
XR_001740272.1:n.1440A= (UBA5)
NM_024818.5:c.974A= (UBA5)	NP_079094.1:p.Gln325=
NM_001320210.2:c.806A= (UBA5)	NP_001307139.1:p.Gln269=
NM_001321238.2:c.704A= (UBA5)	NP_001308167.1:p.Gln235=
NM_024818.6:c.974A= (UBA5) MANE Select	NP_079094.1:p.Gln325=
NM_198329.4:c.806A= (UBA5)	NP_938143.1:p.Gln269=