Canonical Allele Identifier: CA354576701
Gene: UBA5 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132675634G>C , CM000665.2:g.132675634G>C GRCh38
NC_000003.11:g.132394478G>C , CM000665.1:g.132394478G>C GRCh37
NC_000003.10:g.133877168G>C NCBI36
NG_052968.1:g.26189G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000683741.1:c.1149G>C (UBA5) ENSP00000507396.1:p.Glu383Asp
ENST00000356232.10:c.978G>C (UBA5) MANE Select ENSP00000348565.4:p.Glu326Asp
ENST00000264991.8:c.810G>C (UBA5) ENSP00000264991.4:p.Glu270Asp
ENST00000356232.8:c.978G>C (UBA5) ENSP00000348565.4:p.Glu326Asp
ENST00000468227.5:n.2409G>C (UBA5)
ENST00000471702.2:c.*1980+6280C>G (NPHP3-ACAD11) ENSP00000419763.1:n.*1980+6280C>G
ENST00000473651.5:c.978G>C (UBA5) ENSP00000424984.1:p.Glu326Asp
ENST00000493720.6:c.978G>C (UBA5) ENSP00000417879.2:p.Glu326Asp
ENST00000494112.1:n.253G>C (UBA5)
ENST00000494238.6:c.810G>C (UBA5) ENSP00000418807.2:p.Glu270Asp
ENST00000632629.1:c.636+6280C>G (NPHP3-ACAD11)
NM_024818.3:c.978G>C (UBA5) NP_079094.1:p.Glu326Asp
NM_198329.2:c.810G>C (UBA5) NP_938143.1:p.Glu270Asp
NR_037804.1:n.3995+6280C>G (NPHP3-ACAD11)
XM_006713752.2:c.642G>C (UBA5) XP_006713815.1:p.Glu214Asp
XM_011513183.1:c.837G>C (UBA5) XP_011511485.1:p.Glu279Asp
XM_011513184.1:c.810G>C (UBA5) XP_011511486.1:p.Glu270Asp
XM_011513185.1:c.708G>C (UBA5) XP_011511487.1:p.Glu236Asp
NM_001320210.1:c.810G>C (UBA5) NP_001307139.1:p.Glu270Asp
NM_001321238.1:c.708G>C (UBA5) NP_001308167.1:p.Glu236Asp
NM_001321239.1:c.642G>C (UBA5) NP_001308168.1:p.Glu214Asp
NM_024818.4:c.978G>C (UBA5) NP_079094.1:p.Glu326Asp
NM_198329.3:c.810G>C (UBA5) NP_938143.1:p.Glu270Asp
XR_001740272.1:n.1444G>C (UBA5)
NM_024818.5:c.978G>C (UBA5) NP_079094.1:p.Glu326Asp
NM_001320210.2:c.810G>C (UBA5) NP_001307139.1:p.Glu270Asp
NM_001321238.2:c.708G>C (UBA5) NP_001308167.1:p.Glu236Asp
NM_024818.6:c.978G>C (UBA5) MANE Select NP_079094.1:p.Glu326Asp
NM_198329.4:c.810G>C (UBA5) NP_938143.1:p.Glu270Asp