Canonical Allele Identifier: CA354577172

Gene: UBA5 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132395331A>C (hg19) ; chr3:g.132676487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132676487A>C , CM000665.2:g.132676487A>C	GRCh38
NC_000003.11:g.132395331A>C , CM000665.1:g.132395331A>C	GRCh37
NC_000003.10:g.133878021A>C	NCBI36
NG_052968.1:g.27042A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1347A>C (UBA5)	ENSP00000507396.1:p.Glu449Asp
ENST00000356232.10:c.1176A>C (UBA5) MANE Select	ENSP00000348565.4:p.Glu392Asp
ENST00000264991.8:c.1008A>C (UBA5)	ENSP00000264991.4:p.Glu336Asp
ENST00000356232.8:c.1176A>C (UBA5)	ENSP00000348565.4:p.Glu392Asp
ENST00000468227.5:n.2607A>C (UBA5)
ENST00000471702.2:c.*1980+5427T>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+5427T>G
ENST00000473651.5:c.*25A>C (UBA5)	ENSP00000424984.1:n.*25A>C
ENST00000493720.6:c.1132-368A>C (UBA5)	ENSP00000417879.2:n.1132-368A>C
ENST00000494112.1:n.451A>C (UBA5)
ENST00000494238.6:c.1008A>C (UBA5)	ENSP00000418807.2:p.Glu336Asp
ENST00000632629.1:c.636+5427T>G (NPHP3-ACAD11)
NM_024818.3:c.1176A>C (UBA5)	NP_079094.1:p.Glu392Asp
NM_198329.2:c.1008A>C (UBA5)	NP_938143.1:p.Glu336Asp
NR_037804.1:n.3995+5427T>G (NPHP3-ACAD11)
XM_006713752.2:c.840A>C (UBA5)	XP_006713815.1:p.Glu280Asp
XM_011513183.1:c.1035A>C (UBA5)	XP_011511485.1:p.Glu345Asp
XM_011513184.1:c.1008A>C (UBA5)	XP_011511486.1:p.Glu336Asp
XM_011513185.1:c.906A>C (UBA5)	XP_011511487.1:p.Glu302Asp
NM_001320210.1:c.1008A>C (UBA5)	NP_001307139.1:p.Glu336Asp
NM_001321238.1:c.906A>C (UBA5)	NP_001308167.1:p.Glu302Asp
NM_001321239.1:c.840A>C (UBA5)	NP_001308168.1:p.Glu280Asp
NM_024818.4:c.1176A>C (UBA5)	NP_079094.1:p.Glu392Asp
NM_198329.3:c.1008A>C (UBA5)	NP_938143.1:p.Glu336Asp
XR_001740272.1:n.1642A>C (UBA5)
NM_024818.5:c.1176A>C (UBA5)	NP_079094.1:p.Glu392Asp
NM_001320210.2:c.1008A>C (UBA5)	NP_001307139.1:p.Glu336Asp
NM_001321238.2:c.906A>C (UBA5)	NP_001308167.1:p.Glu302Asp
NM_024818.6:c.1176A>C (UBA5) MANE Select	NP_079094.1:p.Glu392Asp
NM_198329.4:c.1008A>C (UBA5)	NP_938143.1:p.Glu336Asp