Canonical Allele Identifier: CA1053646244

Gene: UBA5 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1938570951
• gnomAD v4: 3-132670883-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132670883G>A , CM000665.2:g.132670883G>A	GRCh38
NC_000003.11:g.132389727G>A , CM000665.1:g.132389727G>A	GRCh37
NC_000003.10:g.133872417G>A	NCBI36
NG_052968.1:g.21438G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.666-82G>A (UBA5)	ENSP00000507396.1:n.666-82G>A
ENST00000356232.10:c.495-82G>A (UBA5) MANE Select	ENSP00000348565.4:n.495-82G>A
ENST00000264991.8:c.327-82G>A (UBA5)	ENSP00000264991.4:n.327-82G>A
ENST00000356232.8:c.495-82G>A (UBA5)	ENSP00000348565.4:n.495-82G>A
ENST00000464068.5:c.225-82G>A (UBA5)	ENSP00000420055.1:n.225-82G>A
ENST00000468227.5:n.1758-82G>A (UBA5)
ENST00000469158.1:n.202G>A (UBA5)
ENST00000471702.2:c.*1980+11031C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+11031C>T
ENST00000473651.5:c.495-82G>A (UBA5)	ENSP00000424984.1:n.495-82G>A
ENST00000493720.6:c.495-82G>A (UBA5)	ENSP00000417879.2:n.495-82G>A
ENST00000494238.6:c.327-82G>A (UBA5)	ENSP00000418807.2:n.327-82G>A
ENST00000505777.5:c.*164-82G>A (UBA5)	ENSP00000427233.1:n.*164-82G>A
ENST00000632629.1:c.636+11031C>T (NPHP3-ACAD11)
NM_024818.3:c.495-82G>A (UBA5)	NP_079094.1:n.495-82G>A
NM_198329.2:c.327-82G>A (UBA5)	NP_938143.1:n.327-82G>A
NR_037804.1:n.3995+11031C>T (NPHP3-ACAD11)
XM_006713752.2:c.159-82G>A (UBA5)	XP_006713815.1:n.159-82G>A
XM_011513183.1:c.354-82G>A (UBA5)	XP_011511485.1:n.354-82G>A
XM_011513184.1:c.327-82G>A (UBA5)	XP_011511486.1:n.327-82G>A
XM_011513185.1:c.225-82G>A (UBA5)	XP_011511487.1:n.225-82G>A
NM_001320210.1:c.327-82G>A (UBA5)	NP_001307139.1:n.327-82G>A
NM_001321238.1:c.225-82G>A (UBA5)	NP_001308167.1:n.225-82G>A
NM_001321239.1:c.159-82G>A (UBA5)	NP_001308168.1:n.159-82G>A
NM_024818.4:c.495-82G>A (UBA5)	NP_079094.1:n.495-82G>A
NM_198329.3:c.327-82G>A (UBA5)	NP_938143.1:n.327-82G>A
XR_001740272.1:n.1097-82G>A (UBA5)
NM_024818.5:c.495-82G>A (UBA5)	NP_079094.1:n.495-82G>A
NM_001320210.2:c.327-82G>A (UBA5)	NP_001307139.1:n.327-82G>A
NM_001321238.2:c.225-82G>A (UBA5)	NP_001308167.1:n.225-82G>A
NM_024818.6:c.495-82G>A (UBA5) MANE Select	NP_079094.1:n.495-82G>A
NM_198329.4:c.327-82G>A (UBA5)	NP_938143.1:n.327-82G>A