Canonical Allele Identifier: CA354572468
Gene: UBA5 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132665833G>C , CM000665.2:g.132665833G>C GRCh38
NC_000003.11:g.132384677G>C , CM000665.1:g.132384677G>C GRCh37
NC_000003.10:g.133867367G>C NCBI36
NG_052968.1:g.16388G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000683741.1:c.343G>C (UBA5) ENSP00000507396.1:p.Ala115Pro
ENST00000356232.10:c.172G>C (UBA5) MANE Select ENSP00000348565.4:p.Ala58Pro
ENST00000264991.8:c.4G>C (UBA5) ENSP00000264991.4:p.Ala2Pro
ENST00000356232.8:c.172G>C (UBA5) ENSP00000348565.4:p.Ala58Pro
ENST00000464068.5:c.28-2985G>C (UBA5) ENSP00000420055.1:n.28-2985G>C
ENST00000464101.2:n.367G>C (UBA5)
ENST00000468022.5:c.4G>C (UBA5) ENSP00000418569.1:p.Ala2Pro
ENST00000471702.2:c.*1980+16081C>G (NPHP3-ACAD11) ENSP00000419763.1:n.*1980+16081C>G
ENST00000473651.5:c.172G>C (UBA5) ENSP00000424984.1:p.Ala58Pro
ENST00000489361.1:c.4G>C (UBA5) ENSP00000417905.1:p.Ala2Pro
ENST00000493720.6:c.172G>C (UBA5) ENSP00000417879.2:p.Ala58Pro
ENST00000494238.6:c.4G>C (UBA5) ENSP00000418807.2:p.Ala2Pro
ENST00000505777.5:c.162-2985G>C (UBA5) ENSP00000427233.1:n.162-2985G>C
ENST00000632629.1:c.636+16081C>G (NPHP3-ACAD11)
NM_024818.3:c.172G>C (UBA5) NP_079094.1:p.Ala58Pro
NM_198329.2:c.4G>C (UBA5) NP_938143.1:p.Ala2Pro
NR_037804.1:n.3995+16081C>G (NPHP3-ACAD11)
XM_006713752.2:c.-39-2985G>C (UBA5) XP_006713815.1:n.-39-2985G>C
XM_011513184.1:c.4G>C (UBA5) XP_011511486.1:p.Ala2Pro
XM_011513185.1:c.28-2985G>C (UBA5) XP_011511487.1:n.28-2985G>C
NM_001320210.1:c.4G>C (UBA5) NP_001307139.1:p.Ala2Pro
NM_001321238.1:c.28-2985G>C (UBA5) NP_001308167.1:n.28-2985G>C
NM_001321239.1:c.-39-2985G>C (UBA5) NP_001308168.1:n.-39-2985G>C
NM_024818.4:c.172G>C (UBA5) NP_079094.1:p.Ala58Pro
NM_198329.3:c.4G>C (UBA5) NP_938143.1:p.Ala2Pro
XR_001740272.1:n.774G>C (UBA5)
NM_024818.5:c.172G>C (UBA5) NP_079094.1:p.Ala58Pro
NM_001320210.2:c.4G>C (UBA5) NP_001307139.1:p.Ala2Pro
NM_001321238.2:c.28-2985G>C (UBA5) NP_001308167.1:n.28-2985G>C
NM_024818.6:c.172G>C (UBA5) MANE Select NP_079094.1:p.Ala58Pro
NM_198329.4:c.4G>C (UBA5) NP_938143.1:p.Ala2Pro