Canonical Allele Identifier: CA1402635688

Gene: UBA5 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132671032C= , CM000665.2:g.132671032C=	GRCh38
NC_000003.11:g.132389876C= , CM000665.1:g.132389876C=	GRCh37
NC_000003.10:g.133872566C=	NCBI36
NG_052968.1:g.21587C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.733C= (UBA5)	ENSP00000507396.1:p.Arg245=
ENST00000356232.10:c.562C= (UBA5) MANE Select	ENSP00000348565.4:p.Arg188=
ENST00000264991.8:c.394C= (UBA5)	ENSP00000264991.4:p.Arg132=
ENST00000356232.8:c.562C= (UBA5)	ENSP00000348565.4:p.Arg188=
ENST00000464068.5:c.292C= (UBA5)	ENSP00000420055.1:p.Arg98=
ENST00000468227.5:n.1825C= (UBA5)
ENST00000469158.1:n.351C= (UBA5)
ENST00000471702.2:c.*1980+10882G= (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+10882G=
ENST00000473651.5:c.562C= (UBA5)	ENSP00000424984.1:p.Arg188=
ENST00000493720.6:c.562C= (UBA5)	ENSP00000417879.2:p.Arg188=
ENST00000494238.6:c.394C= (UBA5)	ENSP00000418807.2:p.Arg132=
ENST00000505777.5:c.*231C= (UBA5)	ENSP00000427233.1:n.*231C=
ENST00000632629.1:c.636+10882G= (NPHP3-ACAD11)
NM_024818.3:c.562C= (UBA5)	NP_079094.1:p.Arg188=
NM_198329.2:c.394C= (UBA5)	NP_938143.1:p.Arg132=
NR_037804.1:n.3995+10882G= (NPHP3-ACAD11)
XM_006713752.2:c.226C= (UBA5)	XP_006713815.1:p.Arg76=
XM_011513183.1:c.421C= (UBA5)	XP_011511485.1:p.Arg141=
XM_011513184.1:c.394C= (UBA5)	XP_011511486.1:p.Arg132=
XM_011513185.1:c.292C= (UBA5)	XP_011511487.1:p.Arg98=
NM_001320210.1:c.394C= (UBA5)	NP_001307139.1:p.Arg132=
NM_001321238.1:c.292C= (UBA5)	NP_001308167.1:p.Arg98=
NM_001321239.1:c.226C= (UBA5)	NP_001308168.1:p.Arg76=
NM_024818.4:c.562C= (UBA5)	NP_079094.1:p.Arg188=
NM_198329.3:c.394C= (UBA5)	NP_938143.1:p.Arg132=
XR_001740272.1:n.1164C= (UBA5)
NM_024818.5:c.562C= (UBA5)	NP_079094.1:p.Arg188=
NM_001320210.2:c.394C= (UBA5)	NP_001307139.1:p.Arg132=
NM_001321238.2:c.292C= (UBA5)	NP_001308167.1:p.Arg98=
NM_024818.6:c.562C= (UBA5) MANE Select	NP_079094.1:p.Arg188=
NM_198329.4:c.394C= (UBA5)	NP_938143.1:p.Arg132=