Canonical Allele Identifier: CA354577168

Gene: UBA5 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132395329G>T (hg19) ; chr3:g.132676485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132676485G>T , CM000665.2:g.132676485G>T	GRCh38
NC_000003.11:g.132395329G>T , CM000665.1:g.132395329G>T	GRCh37
NC_000003.10:g.133878019G>T	NCBI36
NG_052968.1:g.27040G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1345G>T (UBA5)	ENSP00000507396.1:p.Glu449Ter
ENST00000356232.10:c.1174G>T (UBA5) MANE Select	ENSP00000348565.4:p.Glu392Ter
ENST00000264991.8:c.1006G>T (UBA5)	ENSP00000264991.4:p.Glu336Ter
ENST00000356232.8:c.1174G>T (UBA5)	ENSP00000348565.4:p.Glu392Ter
ENST00000468227.5:n.2605G>T (UBA5)
ENST00000471702.2:c.*1980+5429C>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+5429C>A
ENST00000473651.5:c.*23G>T (UBA5)	ENSP00000424984.1:n.*23G>T
ENST00000493720.6:c.1132-370G>T (UBA5)	ENSP00000417879.2:n.1132-370G>T
ENST00000494112.1:n.449G>T (UBA5)
ENST00000494238.6:c.1006G>T (UBA5)	ENSP00000418807.2:p.Glu336Ter
ENST00000632629.1:c.636+5429C>A (NPHP3-ACAD11)
NM_024818.3:c.1174G>T (UBA5)	NP_079094.1:p.Glu392Ter
NM_198329.2:c.1006G>T (UBA5)	NP_938143.1:p.Glu336Ter
NR_037804.1:n.3995+5429C>A (NPHP3-ACAD11)
XM_006713752.2:c.838G>T (UBA5)	XP_006713815.1:p.Glu280Ter
XM_011513183.1:c.1033G>T (UBA5)	XP_011511485.1:p.Glu345Ter
XM_011513184.1:c.1006G>T (UBA5)	XP_011511486.1:p.Glu336Ter
XM_011513185.1:c.904G>T (UBA5)	XP_011511487.1:p.Glu302Ter
NM_001320210.1:c.1006G>T (UBA5)	NP_001307139.1:p.Glu336Ter
NM_001321238.1:c.904G>T (UBA5)	NP_001308167.1:p.Glu302Ter
NM_001321239.1:c.838G>T (UBA5)	NP_001308168.1:p.Glu280Ter
NM_024818.4:c.1174G>T (UBA5)	NP_079094.1:p.Glu392Ter
NM_198329.3:c.1006G>T (UBA5)	NP_938143.1:p.Glu336Ter
XR_001740272.1:n.1640G>T (UBA5)
NM_024818.5:c.1174G>T (UBA5)	NP_079094.1:p.Glu392Ter
NM_001320210.2:c.1006G>T (UBA5)	NP_001307139.1:p.Glu336Ter
NM_001321238.2:c.904G>T (UBA5)	NP_001308167.1:p.Glu302Ter
NM_024818.6:c.1174G>T (UBA5) MANE Select	NP_079094.1:p.Glu392Ter
NM_198329.4:c.1006G>T (UBA5)	NP_938143.1:p.Glu336Ter