Canonical Allele Identifier: CA435799857

Gene: UBA5 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132394098G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675254G>C , CM000665.2:g.132675254G>C	GRCh38
NC_000003.11:g.132394098G>C , CM000665.1:g.132394098G>C	GRCh37
NC_000003.10:g.133876788G>C	NCBI36
NG_052968.1:g.25809G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.990G>C (UBA5)	ENSP00000507396.1:p.Leu330=
ENST00000356232.10:c.819G>C (UBA5) MANE Select	ENSP00000348565.4:p.Leu273=
ENST00000264991.8:c.651G>C (UBA5)	ENSP00000264991.4:p.Leu217=
ENST00000356232.8:c.819G>C (UBA5)	ENSP00000348565.4:p.Leu273=
ENST00000468227.5:n.2250G>C (UBA5)
ENST00000471702.2:c.*1980+6660C>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+6660C>G
ENST00000473651.5:c.819G>C (UBA5)	ENSP00000424984.1:p.Leu273=
ENST00000493720.6:c.819G>C (UBA5)	ENSP00000417879.2:p.Leu273=
ENST00000494238.6:c.651G>C (UBA5)	ENSP00000418807.2:p.Leu217=
ENST00000632629.1:c.636+6660C>G (NPHP3-ACAD11)
NM_024818.3:c.819G>C (UBA5)	NP_079094.1:p.Leu273=
NM_198329.2:c.651G>C (UBA5)	NP_938143.1:p.Leu217=
NR_037804.1:n.3995+6660C>G (NPHP3-ACAD11)
XM_006713752.2:c.483G>C (UBA5)	XP_006713815.1:p.Leu161=
XM_011513183.1:c.678G>C (UBA5)	XP_011511485.1:p.Leu226=
XM_011513184.1:c.651G>C (UBA5)	XP_011511486.1:p.Leu217=
XM_011513185.1:c.549G>C (UBA5)	XP_011511487.1:p.Leu183=
NM_001320210.1:c.651G>C (UBA5)	NP_001307139.1:p.Leu217=
NM_001321238.1:c.549G>C (UBA5)	NP_001308167.1:p.Leu183=
NM_001321239.1:c.483G>C (UBA5)	NP_001308168.1:p.Leu161=
NM_024818.4:c.819G>C (UBA5)	NP_079094.1:p.Leu273=
NM_198329.3:c.651G>C (UBA5)	NP_938143.1:p.Leu217=
XR_001740272.1:n.1415-351G>C (UBA5)
NM_024818.5:c.819G>C (UBA5)	NP_079094.1:p.Leu273=
NM_001320210.2:c.651G>C (UBA5)	NP_001307139.1:p.Leu217=
NM_001321238.2:c.549G>C (UBA5)	NP_001308167.1:p.Leu183=
NM_024818.6:c.819G>C (UBA5) MANE Select	NP_079094.1:p.Leu273=
NM_198329.4:c.651G>C (UBA5)	NP_938143.1:p.Leu217=