Canonical Allele Identifier: CA354577169

Gene: UBA5 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132395330A>C (hg19) ; chr3:g.132676486A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132676486A>C , CM000665.2:g.132676486A>C	GRCh38
NC_000003.11:g.132395330A>C , CM000665.1:g.132395330A>C	GRCh37
NC_000003.10:g.133878020A>C	NCBI36
NG_052968.1:g.27041A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1346A>C (UBA5)	ENSP00000507396.1:p.Glu449Ala
ENST00000356232.10:c.1175A>C (UBA5) MANE Select	ENSP00000348565.4:p.Glu392Ala
ENST00000264991.8:c.1007A>C (UBA5)	ENSP00000264991.4:p.Glu336Ala
ENST00000356232.8:c.1175A>C (UBA5)	ENSP00000348565.4:p.Glu392Ala
ENST00000468227.5:n.2606A>C (UBA5)
ENST00000471702.2:c.*1980+5428T>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+5428T>G
ENST00000473651.5:c.*24A>C (UBA5)	ENSP00000424984.1:n.*24A>C
ENST00000493720.6:c.1132-369A>C (UBA5)	ENSP00000417879.2:n.1132-369A>C
ENST00000494112.1:n.450A>C (UBA5)
ENST00000494238.6:c.1007A>C (UBA5)	ENSP00000418807.2:p.Glu336Ala
ENST00000632629.1:c.636+5428T>G (NPHP3-ACAD11)
NM_024818.3:c.1175A>C (UBA5)	NP_079094.1:p.Glu392Ala
NM_198329.2:c.1007A>C (UBA5)	NP_938143.1:p.Glu336Ala
NR_037804.1:n.3995+5428T>G (NPHP3-ACAD11)
XM_006713752.2:c.839A>C (UBA5)	XP_006713815.1:p.Glu280Ala
XM_011513183.1:c.1034A>C (UBA5)	XP_011511485.1:p.Glu345Ala
XM_011513184.1:c.1007A>C (UBA5)	XP_011511486.1:p.Glu336Ala
XM_011513185.1:c.905A>C (UBA5)	XP_011511487.1:p.Glu302Ala
NM_001320210.1:c.1007A>C (UBA5)	NP_001307139.1:p.Glu336Ala
NM_001321238.1:c.905A>C (UBA5)	NP_001308167.1:p.Glu302Ala
NM_001321239.1:c.839A>C (UBA5)	NP_001308168.1:p.Glu280Ala
NM_024818.4:c.1175A>C (UBA5)	NP_079094.1:p.Glu392Ala
NM_198329.3:c.1007A>C (UBA5)	NP_938143.1:p.Glu336Ala
XR_001740272.1:n.1641A>C (UBA5)
NM_024818.5:c.1175A>C (UBA5)	NP_079094.1:p.Glu392Ala
NM_001320210.2:c.1007A>C (UBA5)	NP_001307139.1:p.Glu336Ala
NM_001321238.2:c.905A>C (UBA5)	NP_001308167.1:p.Glu302Ala
NM_024818.6:c.1175A>C (UBA5) MANE Select	NP_079094.1:p.Glu392Ala
NM_198329.4:c.1007A>C (UBA5)	NP_938143.1:p.Glu336Ala