Canonical Allele Identifier: CA1402640046

Gene: UBA5 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675827G= , CM000665.2:g.132675827G=	GRCh38
NC_000003.11:g.132394671G= , CM000665.1:g.132394671G=	GRCh37
NC_000003.10:g.133877361G=	NCBI36
NG_052968.1:g.26382G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.1206G= (UBA5)	ENSP00000507396.1:p.Leu402=
ENST00000356232.10:c.1035G= (UBA5) MANE Select	ENSP00000348565.4:p.Leu345=
ENST00000264991.8:c.867G= (UBA5)	ENSP00000264991.4:p.Leu289=
ENST00000356232.8:c.1035G= (UBA5)	ENSP00000348565.4:p.Leu345=
ENST00000468227.5:n.2466G= (UBA5)
ENST00000471702.2:c.*1980+6087C= (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+6087C=
ENST00000473651.5:c.1024+147G= (UBA5)	ENSP00000424984.1:n.1024+147G=
ENST00000493720.6:c.1035G= (UBA5)	ENSP00000417879.2:p.Leu345=
ENST00000494112.1:n.310G= (UBA5)
ENST00000494238.6:c.867G= (UBA5)	ENSP00000418807.2:p.Leu289=
ENST00000632629.1:c.636+6087C= (NPHP3-ACAD11)
NM_024818.3:c.1035G= (UBA5)	NP_079094.1:p.Leu345=
NM_198329.2:c.867G= (UBA5)	NP_938143.1:p.Leu289=
NR_037804.1:n.3995+6087C= (NPHP3-ACAD11)
XM_006713752.2:c.699G= (UBA5)	XP_006713815.1:p.Leu233=
XM_011513183.1:c.894G= (UBA5)	XP_011511485.1:p.Leu298=
XM_011513184.1:c.867G= (UBA5)	XP_011511486.1:p.Leu289=
XM_011513185.1:c.765G= (UBA5)	XP_011511487.1:p.Leu255=
NM_001320210.1:c.867G= (UBA5)	NP_001307139.1:p.Leu289=
NM_001321238.1:c.765G= (UBA5)	NP_001308167.1:p.Leu255=
NM_001321239.1:c.699G= (UBA5)	NP_001308168.1:p.Leu233=
NM_024818.4:c.1035G= (UBA5)	NP_079094.1:p.Leu345=
NM_198329.3:c.867G= (UBA5)	NP_938143.1:p.Leu289=
XR_001740272.1:n.1501G= (UBA5)
NM_024818.5:c.1035G= (UBA5)	NP_079094.1:p.Leu345=
NM_001320210.2:c.867G= (UBA5)	NP_001307139.1:p.Leu289=
NM_001321238.2:c.765G= (UBA5)	NP_001308167.1:p.Leu255=
NM_024818.6:c.1035G= (UBA5) MANE Select	NP_079094.1:p.Leu345=
NM_198329.4:c.867G= (UBA5)	NP_938143.1:p.Leu289=