Canonical Allele Identifier: CA354573661
Gene: UBA5 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132670984G>T , CM000665.2:g.132670984G>T GRCh38
NC_000003.11:g.132389828G>T , CM000665.1:g.132389828G>T GRCh37
NC_000003.10:g.133872518G>T NCBI36
NG_052968.1:g.21539G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683741.1:c.685G>T (UBA5) ENSP00000507396.1:p.Gly229Ter
ENST00000356232.10:c.514G>T (UBA5) MANE Select ENSP00000348565.4:p.Gly172Ter
ENST00000264991.8:c.346G>T (UBA5) ENSP00000264991.4:p.Gly116Ter
ENST00000356232.8:c.514G>T (UBA5) ENSP00000348565.4:p.Gly172Ter
ENST00000464068.5:c.244G>T (UBA5) ENSP00000420055.1:p.Gly82Ter
ENST00000468227.5:n.1777G>T (UBA5)
ENST00000469158.1:n.303G>T (UBA5)
ENST00000471702.2:c.*1980+10930C>A (NPHP3-ACAD11) ENSP00000419763.1:n.*1980+10930C>A
ENST00000473651.5:c.514G>T (UBA5) ENSP00000424984.1:p.Gly172Ter
ENST00000493720.6:c.514G>T (UBA5) ENSP00000417879.2:p.Gly172Ter
ENST00000494238.6:c.346G>T (UBA5) ENSP00000418807.2:p.Gly116Ter
ENST00000505777.5:c.*183G>T (UBA5) ENSP00000427233.1:n.*183G>T
ENST00000632629.1:c.636+10930C>A (NPHP3-ACAD11)
NM_024818.3:c.514G>T (UBA5) NP_079094.1:p.Gly172Ter
NM_198329.2:c.346G>T (UBA5) NP_938143.1:p.Gly116Ter
NR_037804.1:n.3995+10930C>A (NPHP3-ACAD11)
XM_006713752.2:c.178G>T (UBA5) XP_006713815.1:p.Gly60Ter
XM_011513183.1:c.373G>T (UBA5) XP_011511485.1:p.Gly125Ter
XM_011513184.1:c.346G>T (UBA5) XP_011511486.1:p.Gly116Ter
XM_011513185.1:c.244G>T (UBA5) XP_011511487.1:p.Gly82Ter
NM_001320210.1:c.346G>T (UBA5) NP_001307139.1:p.Gly116Ter
NM_001321238.1:c.244G>T (UBA5) NP_001308167.1:p.Gly82Ter
NM_001321239.1:c.178G>T (UBA5) NP_001308168.1:p.Gly60Ter
NM_024818.4:c.514G>T (UBA5) NP_079094.1:p.Gly172Ter
NM_198329.3:c.346G>T (UBA5) NP_938143.1:p.Gly116Ter
XR_001740272.1:n.1116G>T (UBA5)
NM_024818.5:c.514G>T (UBA5) NP_079094.1:p.Gly172Ter
NM_001320210.2:c.346G>T (UBA5) NP_001307139.1:p.Gly116Ter
NM_001321238.2:c.244G>T (UBA5) NP_001308167.1:p.Gly82Ter
NM_024818.6:c.514G>T (UBA5) MANE Select NP_079094.1:p.Gly172Ter
NM_198329.4:c.346G>T (UBA5) NP_938143.1:p.Gly116Ter