Canonical Allele Identifier: CA1402640176

Gene: UBA5 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675914T= , CM000665.2:g.132675914T=	GRCh38
NC_000003.11:g.132394758T= , CM000665.1:g.132394758T=	GRCh37
NC_000003.10:g.133877448T=	NCBI36
NG_052968.1:g.26469T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.1293T= (UBA5)	ENSP00000507396.1:p.Ile431=
ENST00000356232.10:c.1122T= (UBA5) MANE Select	ENSP00000348565.4:p.Ile374=
ENST00000264991.8:c.954T= (UBA5)	ENSP00000264991.4:p.Ile318=
ENST00000356232.8:c.1122T= (UBA5)	ENSP00000348565.4:p.Ile374=
ENST00000468227.5:n.2553T= (UBA5)
ENST00000471702.2:c.*1980+6000A= (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+6000A=
ENST00000473651.5:c.1024+234T= (UBA5)	ENSP00000424984.1:n.1024+234T=
ENST00000493720.6:c.1122T= (UBA5)	ENSP00000417879.2:p.Ile374=
ENST00000494112.1:n.397T= (UBA5)
ENST00000494238.6:c.954T= (UBA5)	ENSP00000418807.2:p.Ile318=
ENST00000632629.1:c.636+6000A= (NPHP3-ACAD11)
NM_024818.3:c.1122T= (UBA5)	NP_079094.1:p.Ile374=
NM_198329.2:c.954T= (UBA5)	NP_938143.1:p.Ile318=
NR_037804.1:n.3995+6000A= (NPHP3-ACAD11)
XM_006713752.2:c.786T= (UBA5)	XP_006713815.1:p.Ile262=
XM_011513183.1:c.981T= (UBA5)	XP_011511485.1:p.Ile327=
XM_011513184.1:c.954T= (UBA5)	XP_011511486.1:p.Ile318=
XM_011513185.1:c.852T= (UBA5)	XP_011511487.1:p.Ile284=
NM_001320210.1:c.954T= (UBA5)	NP_001307139.1:p.Ile318=
NM_001321238.1:c.852T= (UBA5)	NP_001308167.1:p.Ile284=
NM_001321239.1:c.786T= (UBA5)	NP_001308168.1:p.Ile262=
NM_024818.4:c.1122T= (UBA5)	NP_079094.1:p.Ile374=
NM_198329.3:c.954T= (UBA5)	NP_938143.1:p.Ile318=
XR_001740272.1:n.1588T= (UBA5)
NM_024818.5:c.1122T= (UBA5)	NP_079094.1:p.Ile374=
NM_001320210.2:c.954T= (UBA5)	NP_001307139.1:p.Ile318=
NM_001321238.2:c.852T= (UBA5)	NP_001308167.1:p.Ile284=
NM_024818.6:c.1122T= (UBA5) MANE Select	NP_079094.1:p.Ile374=
NM_198329.4:c.954T= (UBA5)	NP_938143.1:p.Ile318=