Canonical Allele Identifier: CA354577152

Gene: UBA5 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1444935120
• gnomAD v2: 3-132395321-A-G
• gnomAD v4: 3-132676477-A-G
• MyVariant Identifiers: chr3:g.132395321A>G (hg19) ; chr3:g.132676477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132676477A>G , CM000665.2:g.132676477A>G	GRCh38
NC_000003.11:g.132395321A>G , CM000665.1:g.132395321A>G	GRCh37
NC_000003.10:g.133878011A>G	NCBI36
NG_052968.1:g.27032A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1337A>G (UBA5)	ENSP00000507396.1:p.Asp446Gly
ENST00000356232.10:c.1166A>G (UBA5) MANE Select	ENSP00000348565.4:p.Asp389Gly
ENST00000264991.8:c.998A>G (UBA5)	ENSP00000264991.4:p.Asp333Gly
ENST00000356232.8:c.1166A>G (UBA5)	ENSP00000348565.4:p.Asp389Gly
ENST00000468227.5:n.2597A>G (UBA5)
ENST00000471702.2:c.*1980+5437T>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+5437T>C
ENST00000473651.5:c.*15A>G (UBA5)	ENSP00000424984.1:n.*15A>G
ENST00000493720.6:c.1132-378A>G (UBA5)	ENSP00000417879.2:n.1132-378A>G
ENST00000494112.1:n.441A>G (UBA5)
ENST00000494238.6:c.998A>G (UBA5)	ENSP00000418807.2:p.Asp333Gly
ENST00000632629.1:c.636+5437T>C (NPHP3-ACAD11)
NM_024818.3:c.1166A>G (UBA5)	NP_079094.1:p.Asp389Gly
NM_198329.2:c.998A>G (UBA5)	NP_938143.1:p.Asp333Gly
NR_037804.1:n.3995+5437T>C (NPHP3-ACAD11)
XM_006713752.2:c.830A>G (UBA5)	XP_006713815.1:p.Asp277Gly
XM_011513183.1:c.1025A>G (UBA5)	XP_011511485.1:p.Asp342Gly
XM_011513184.1:c.998A>G (UBA5)	XP_011511486.1:p.Asp333Gly
XM_011513185.1:c.896A>G (UBA5)	XP_011511487.1:p.Asp299Gly
NM_001320210.1:c.998A>G (UBA5)	NP_001307139.1:p.Asp333Gly
NM_001321238.1:c.896A>G (UBA5)	NP_001308167.1:p.Asp299Gly
NM_001321239.1:c.830A>G (UBA5)	NP_001308168.1:p.Asp277Gly
NM_024818.4:c.1166A>G (UBA5)	NP_079094.1:p.Asp389Gly
NM_198329.3:c.998A>G (UBA5)	NP_938143.1:p.Asp333Gly
XR_001740272.1:n.1632A>G (UBA5)
NM_024818.5:c.1166A>G (UBA5)	NP_079094.1:p.Asp389Gly
NM_001320210.2:c.998A>G (UBA5)	NP_001307139.1:p.Asp333Gly
NM_001321238.2:c.896A>G (UBA5)	NP_001308167.1:p.Asp299Gly
NM_024818.6:c.1166A>G (UBA5) MANE Select	NP_079094.1:p.Asp389Gly
NM_198329.4:c.998A>G (UBA5)	NP_938143.1:p.Asp333Gly