Canonical Allele Identifier: CA354577178

Gene: UBA5 NPHP3-ACAD11

Linked Data

• gnomAD v4: 3-132676489-G-C
• MyVariant Identifiers: chr3:g.132395333G>C (hg19) ; chr3:g.132676489G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132676489G>C , CM000665.2:g.132676489G>C	GRCh38
NC_000003.11:g.132395333G>C , CM000665.1:g.132395333G>C	GRCh37
NC_000003.10:g.133878023G>C	NCBI36
NG_052968.1:g.27044G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1349G>C (UBA5)	ENSP00000507396.1:p.Ser450Thr
ENST00000356232.10:c.1178G>C (UBA5) MANE Select	ENSP00000348565.4:p.Ser393Thr
ENST00000264991.8:c.1010G>C (UBA5)	ENSP00000264991.4:p.Ser337Thr
ENST00000356232.8:c.1178G>C (UBA5)	ENSP00000348565.4:p.Ser393Thr
ENST00000468227.5:n.2609G>C (UBA5)
ENST00000471702.2:c.*1980+5425C>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+5425C>G
ENST00000473651.5:c.*27G>C (UBA5)	ENSP00000424984.1:n.*27G>C
ENST00000493720.6:c.1132-366G>C (UBA5)	ENSP00000417879.2:n.1132-366G>C
ENST00000494112.1:n.453G>C (UBA5)
ENST00000494238.6:c.1010G>C (UBA5)	ENSP00000418807.2:p.Ser337Thr
ENST00000632629.1:c.636+5425C>G (NPHP3-ACAD11)
NM_024818.3:c.1178G>C (UBA5)	NP_079094.1:p.Ser393Thr
NM_198329.2:c.1010G>C (UBA5)	NP_938143.1:p.Ser337Thr
NR_037804.1:n.3995+5425C>G (NPHP3-ACAD11)
XM_006713752.2:c.842G>C (UBA5)	XP_006713815.1:p.Ser281Thr
XM_011513183.1:c.1037G>C (UBA5)	XP_011511485.1:p.Ser346Thr
XM_011513184.1:c.1010G>C (UBA5)	XP_011511486.1:p.Ser337Thr
XM_011513185.1:c.908G>C (UBA5)	XP_011511487.1:p.Ser303Thr
NM_001320210.1:c.1010G>C (UBA5)	NP_001307139.1:p.Ser337Thr
NM_001321238.1:c.908G>C (UBA5)	NP_001308167.1:p.Ser303Thr
NM_001321239.1:c.842G>C (UBA5)	NP_001308168.1:p.Ser281Thr
NM_024818.4:c.1178G>C (UBA5)	NP_079094.1:p.Ser393Thr
NM_198329.3:c.1010G>C (UBA5)	NP_938143.1:p.Ser337Thr
XR_001740272.1:n.1644G>C (UBA5)
NM_024818.5:c.1178G>C (UBA5)	NP_079094.1:p.Ser393Thr
NM_001320210.2:c.1010G>C (UBA5)	NP_001307139.1:p.Ser337Thr
NM_001321238.2:c.908G>C (UBA5)	NP_001308167.1:p.Ser303Thr
NM_024818.6:c.1178G>C (UBA5) MANE Select	NP_079094.1:p.Ser393Thr
NM_198329.4:c.1010G>C (UBA5)	NP_938143.1:p.Ser337Thr