Canonical Allele Identifier: CA1402635559

Gene: UBA5 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132670973G= , CM000665.2:g.132670973G=	GRCh38
NC_000003.11:g.132389817G= , CM000665.1:g.132389817G=	GRCh37
NC_000003.10:g.133872507G=	NCBI36
NG_052968.1:g.21528G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.674G= (UBA5)	ENSP00000507396.1:p.Gly225=
ENST00000356232.10:c.503G= (UBA5) MANE Select	ENSP00000348565.4:p.Gly168=
ENST00000264991.8:c.335G= (UBA5)	ENSP00000264991.4:p.Gly112=
ENST00000356232.8:c.503G= (UBA5)	ENSP00000348565.4:p.Gly168=
ENST00000464068.5:c.233G= (UBA5)	ENSP00000420055.1:p.Gly78=
ENST00000468227.5:n.1766G= (UBA5)
ENST00000469158.1:n.292G= (UBA5)
ENST00000471702.2:c.*1980+10941C= (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+10941C=
ENST00000473651.5:c.503G= (UBA5)	ENSP00000424984.1:p.Gly168=
ENST00000493720.6:c.503G= (UBA5)	ENSP00000417879.2:p.Gly168=
ENST00000494238.6:c.335G= (UBA5)	ENSP00000418807.2:p.Gly112=
ENST00000505777.5:c.*172G= (UBA5)	ENSP00000427233.1:n.*172G=
ENST00000632629.1:c.636+10941C= (NPHP3-ACAD11)
NM_024818.3:c.503G= (UBA5)	NP_079094.1:p.Gly168=
NM_198329.2:c.335G= (UBA5)	NP_938143.1:p.Gly112=
NR_037804.1:n.3995+10941C= (NPHP3-ACAD11)
XM_006713752.2:c.167G= (UBA5)	XP_006713815.1:p.Gly56=
XM_011513183.1:c.362G= (UBA5)	XP_011511485.1:p.Gly121=
XM_011513184.1:c.335G= (UBA5)	XP_011511486.1:p.Gly112=
XM_011513185.1:c.233G= (UBA5)	XP_011511487.1:p.Gly78=
NM_001320210.1:c.335G= (UBA5)	NP_001307139.1:p.Gly112=
NM_001321238.1:c.233G= (UBA5)	NP_001308167.1:p.Gly78=
NM_001321239.1:c.167G= (UBA5)	NP_001308168.1:p.Gly56=
NM_024818.4:c.503G= (UBA5)	NP_079094.1:p.Gly168=
NM_198329.3:c.335G= (UBA5)	NP_938143.1:p.Gly112=
XR_001740272.1:n.1105G= (UBA5)
NM_024818.5:c.503G= (UBA5)	NP_079094.1:p.Gly168=
NM_001320210.2:c.335G= (UBA5)	NP_001307139.1:p.Gly112=
NM_001321238.2:c.233G= (UBA5)	NP_001308167.1:p.Gly78=
NM_024818.6:c.503G= (UBA5) MANE Select	NP_079094.1:p.Gly168=
NM_198329.4:c.335G= (UBA5)	NP_938143.1:p.Gly112=