Canonical Allele Identifier: CA354573626
Gene: UBA5 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132670973G>T , CM000665.2:g.132670973G>T GRCh38
NC_000003.11:g.132389817G>T , CM000665.1:g.132389817G>T GRCh37
NC_000003.10:g.133872507G>T NCBI36
NG_052968.1:g.21528G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683741.1:c.674G>T (UBA5) ENSP00000507396.1:p.Gly225Val
ENST00000356232.10:c.503G>T (UBA5) MANE Select ENSP00000348565.4:p.Gly168Val
ENST00000264991.8:c.335G>T (UBA5) ENSP00000264991.4:p.Gly112Val
ENST00000356232.8:c.503G>T (UBA5) ENSP00000348565.4:p.Gly168Val
ENST00000464068.5:c.233G>T (UBA5) ENSP00000420055.1:p.Gly78Val
ENST00000468227.5:n.1766G>T (UBA5)
ENST00000469158.1:n.292G>T (UBA5)
ENST00000471702.2:c.*1980+10941C>A (NPHP3-ACAD11) ENSP00000419763.1:n.*1980+10941C>A
ENST00000473651.5:c.503G>T (UBA5) ENSP00000424984.1:p.Gly168Val
ENST00000493720.6:c.503G>T (UBA5) ENSP00000417879.2:p.Gly168Val
ENST00000494238.6:c.335G>T (UBA5) ENSP00000418807.2:p.Gly112Val
ENST00000505777.5:c.*172G>T (UBA5) ENSP00000427233.1:n.*172G>T
ENST00000632629.1:c.636+10941C>A (NPHP3-ACAD11)
NM_024818.3:c.503G>T (UBA5) NP_079094.1:p.Gly168Val
NM_198329.2:c.335G>T (UBA5) NP_938143.1:p.Gly112Val
NR_037804.1:n.3995+10941C>A (NPHP3-ACAD11)
XM_006713752.2:c.167G>T (UBA5) XP_006713815.1:p.Gly56Val
XM_011513183.1:c.362G>T (UBA5) XP_011511485.1:p.Gly121Val
XM_011513184.1:c.335G>T (UBA5) XP_011511486.1:p.Gly112Val
XM_011513185.1:c.233G>T (UBA5) XP_011511487.1:p.Gly78Val
NM_001320210.1:c.335G>T (UBA5) NP_001307139.1:p.Gly112Val
NM_001321238.1:c.233G>T (UBA5) NP_001308167.1:p.Gly78Val
NM_001321239.1:c.167G>T (UBA5) NP_001308168.1:p.Gly56Val
NM_024818.4:c.503G>T (UBA5) NP_079094.1:p.Gly168Val
NM_198329.3:c.335G>T (UBA5) NP_938143.1:p.Gly112Val
XR_001740272.1:n.1105G>T (UBA5)
NM_024818.5:c.503G>T (UBA5) NP_079094.1:p.Gly168Val
NM_001320210.2:c.335G>T (UBA5) NP_001307139.1:p.Gly112Val
NM_001321238.2:c.233G>T (UBA5) NP_001308167.1:p.Gly78Val
NM_024818.6:c.503G>T (UBA5) MANE Select NP_079094.1:p.Gly168Val
NM_198329.4:c.335G>T (UBA5) NP_938143.1:p.Gly112Val