Canonical Allele Identifier: CA1402639424

Gene: UBA5 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675248G= , CM000665.2:g.132675248G=	GRCh38
NC_000003.11:g.132394092G= , CM000665.1:g.132394092G=	GRCh37
NC_000003.10:g.133876782G=	NCBI36
NG_052968.1:g.25803G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.984G= (UBA5)	ENSP00000507396.1:p.Lys328=
ENST00000356232.10:c.813G= (UBA5) MANE Select	ENSP00000348565.4:p.Lys271=
ENST00000264991.8:c.645G= (UBA5)	ENSP00000264991.4:p.Lys215=
ENST00000356232.8:c.813G= (UBA5)	ENSP00000348565.4:p.Lys271=
ENST00000468227.5:n.2244G= (UBA5)
ENST00000471702.2:c.*1980+6666C= (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+6666C=
ENST00000473651.5:c.813G= (UBA5)	ENSP00000424984.1:p.Lys271=
ENST00000493720.6:c.813G= (UBA5)	ENSP00000417879.2:p.Lys271=
ENST00000494238.6:c.645G= (UBA5)	ENSP00000418807.2:p.Lys215=
ENST00000632629.1:c.636+6666C= (NPHP3-ACAD11)
NM_024818.3:c.813G= (UBA5)	NP_079094.1:p.Lys271=
NM_198329.2:c.645G= (UBA5)	NP_938143.1:p.Lys215=
NR_037804.1:n.3995+6666C= (NPHP3-ACAD11)
XM_006713752.2:c.477G= (UBA5)	XP_006713815.1:p.Lys159=
XM_011513183.1:c.672G= (UBA5)	XP_011511485.1:p.Lys224=
XM_011513184.1:c.645G= (UBA5)	XP_011511486.1:p.Lys215=
XM_011513185.1:c.543G= (UBA5)	XP_011511487.1:p.Lys181=
NM_001320210.1:c.645G= (UBA5)	NP_001307139.1:p.Lys215=
NM_001321238.1:c.543G= (UBA5)	NP_001308167.1:p.Lys181=
NM_001321239.1:c.477G= (UBA5)	NP_001308168.1:p.Lys159=
NM_024818.4:c.813G= (UBA5)	NP_079094.1:p.Lys271=
NM_198329.3:c.645G= (UBA5)	NP_938143.1:p.Lys215=
XR_001740272.1:n.1415-357G= (UBA5)
NM_024818.5:c.813G= (UBA5)	NP_079094.1:p.Lys271=
NM_001320210.2:c.645G= (UBA5)	NP_001307139.1:p.Lys215=
NM_001321238.2:c.543G= (UBA5)	NP_001308167.1:p.Lys181=
NM_024818.6:c.813G= (UBA5) MANE Select	NP_079094.1:p.Lys271=
NM_198329.4:c.645G= (UBA5)	NP_938143.1:p.Lys215=