Canonical Allele Identifier: CA354574862

Gene: UBA5 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132391000T>A (hg19) ; chr3:g.132672156T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132672156T>A , CM000665.2:g.132672156T>A	GRCh38
NC_000003.11:g.132391000T>A , CM000665.1:g.132391000T>A	GRCh37
NC_000003.10:g.133873690T>A	NCBI36
NG_052968.1:g.22711T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.962T>A (UBA5)	ENSP00000507396.1:p.Ile321Asn
ENST00000356232.10:c.791T>A (UBA5) MANE Select	ENSP00000348565.4:p.Ile264Asn
ENST00000264991.8:c.623T>A (UBA5)	ENSP00000264991.4:p.Ile208Asn
ENST00000356232.8:c.791T>A (UBA5)	ENSP00000348565.4:p.Ile264Asn
ENST00000468227.5:n.2222T>A (UBA5)
ENST00000469158.1:n.580T>A (UBA5)
ENST00000471702.2:c.*1980+9758A>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+9758A>T
ENST00000473651.5:c.791T>A (UBA5)	ENSP00000424984.1:p.Ile264Asn
ENST00000493720.6:c.791T>A (UBA5)	ENSP00000417879.2:p.Ile264Asn
ENST00000494238.6:c.623T>A (UBA5)	ENSP00000418807.2:p.Ile208Asn
ENST00000632629.1:c.636+9758A>T (NPHP3-ACAD11)
NM_024818.3:c.791T>A (UBA5)	NP_079094.1:p.Ile264Asn
NM_198329.2:c.623T>A (UBA5)	NP_938143.1:p.Ile208Asn
NR_037804.1:n.3995+9758A>T (NPHP3-ACAD11)
XM_006713752.2:c.455T>A (UBA5)	XP_006713815.1:p.Ile152Asn
XM_011513183.1:c.650T>A (UBA5)	XP_011511485.1:p.Ile217Asn
XM_011513184.1:c.623T>A (UBA5)	XP_011511486.1:p.Ile208Asn
XM_011513185.1:c.521T>A (UBA5)	XP_011511487.1:p.Ile174Asn
NM_001320210.1:c.623T>A (UBA5)	NP_001307139.1:p.Ile208Asn
NM_001321238.1:c.521T>A (UBA5)	NP_001308167.1:p.Ile174Asn
NM_001321239.1:c.455T>A (UBA5)	NP_001308168.1:p.Ile152Asn
NM_024818.4:c.791T>A (UBA5)	NP_079094.1:p.Ile264Asn
NM_198329.3:c.623T>A (UBA5)	NP_938143.1:p.Ile208Asn
XR_001740272.1:n.1393T>A (UBA5)
NM_024818.5:c.791T>A (UBA5)	NP_079094.1:p.Ile264Asn
NM_001320210.2:c.623T>A (UBA5)	NP_001307139.1:p.Ile208Asn
NM_001321238.2:c.521T>A (UBA5)	NP_001308167.1:p.Ile174Asn
NM_024818.6:c.791T>A (UBA5) MANE Select	NP_079094.1:p.Ile264Asn
NM_198329.4:c.623T>A (UBA5)	NP_938143.1:p.Ile208Asn