Canonical Allele Identifier: CA2667732991

Gene: UBA5 NPHP3-ACAD11

Linked Data

• gnomAD v4: 3-132665700-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132665700C>G , CM000665.2:g.132665700C>G	GRCh38
NC_000003.11:g.132384544C>G , CM000665.1:g.132384544C>G	GRCh37
NC_000003.10:g.133867234C>G	NCBI36
NG_052968.1:g.16255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.333-123C>G (UBA5)	ENSP00000507396.1:n.333-123C>G
ENST00000356232.10:c.162-123C>G (UBA5) MANE Select	ENSP00000348565.4:n.162-123C>G
ENST00000264991.8:c.-7-123C>G (UBA5)	ENSP00000264991.4:n.-7-123C>G
ENST00000356232.8:c.162-123C>G (UBA5)	ENSP00000348565.4:n.162-123C>G
ENST00000464068.5:c.28-3118C>G (UBA5)	ENSP00000420055.1:n.28-3118C>G
ENST00000464101.2:n.357-123C>G (UBA5)
ENST00000468022.5:c.-7-123C>G (UBA5)	ENSP00000418569.1:n.-7-123C>G
ENST00000471702.2:c.*1980+16214G>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+16214G>C
ENST00000473651.5:c.162-123C>G (UBA5)	ENSP00000424984.1:n.162-123C>G
ENST00000493720.6:c.162-123C>G (UBA5)	ENSP00000417879.2:n.162-123C>G
ENST00000494238.6:c.-7-123C>G (UBA5)	ENSP00000418807.2:n.-7-123C>G
ENST00000505777.5:c.162-3118C>G (UBA5)	ENSP00000427233.1:n.162-3118C>G
ENST00000632629.1:c.636+16214G>C (NPHP3-ACAD11)
NM_024818.3:c.162-123C>G (UBA5)	NP_079094.1:n.162-123C>G
NM_198329.2:c.-7-123C>G (UBA5)	NP_938143.1:n.-7-123C>G
NR_037804.1:n.3995+16214G>C (NPHP3-ACAD11)
XM_006713752.2:c.-39-3118C>G (UBA5)	XP_006713815.1:n.-39-3118C>G
XM_011513184.1:c.-7-123C>G (UBA5)	XP_011511486.1:n.-7-123C>G
XM_011513185.1:c.28-3118C>G (UBA5)	XP_011511487.1:n.28-3118C>G
NM_001320210.1:c.-7-123C>G (UBA5)	NP_001307139.1:n.-7-123C>G
NM_001321238.1:c.28-3118C>G (UBA5)	NP_001308167.1:n.28-3118C>G
NM_001321239.1:c.-39-3118C>G (UBA5)	NP_001308168.1:n.-39-3118C>G
NM_024818.4:c.162-123C>G (UBA5)	NP_079094.1:n.162-123C>G
NM_198329.3:c.-7-123C>G (UBA5)	NP_938143.1:n.-7-123C>G
XR_001740272.1:n.764-123C>G (UBA5)
NM_024818.5:c.162-123C>G (UBA5)	NP_079094.1:n.162-123C>G
NM_001320210.2:c.-7-123C>G (UBA5)	NP_001307139.1:n.-7-123C>G
NM_001321238.2:c.28-3118C>G (UBA5)	NP_001308167.1:n.28-3118C>G
NM_024818.6:c.162-123C>G (UBA5) MANE Select	NP_079094.1:n.162-123C>G
NM_198329.4:c.-7-123C>G (UBA5)	NP_938143.1:n.-7-123C>G