Canonical Allele Identifier: CA2758453029

Gene: UBA5 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675460T>G , CM000665.2:g.132675460T>G	GRCh38
NC_000003.11:g.132394304T>G , CM000665.1:g.132394304T>G	GRCh37
NC_000003.10:g.133876994T>G	NCBI36
NG_052968.1:g.26015T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1119+77T>G (UBA5)	ENSP00000507396.1:n.1119+77T>G
ENST00000356232.10:c.948+77T>G (UBA5) MANE Select	ENSP00000348565.4:n.948+77T>G
ENST00000264991.8:c.780+77T>G (UBA5)	ENSP00000264991.4:n.780+77T>G
ENST00000356232.8:c.948+77T>G (UBA5)	ENSP00000348565.4:n.948+77T>G
ENST00000468227.5:n.2379+77T>G (UBA5)
ENST00000471702.2:c.*1980+6454A>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+6454A>C
ENST00000473651.5:c.948+77T>G (UBA5)	ENSP00000424984.1:n.948+77T>G
ENST00000493720.6:c.948+77T>G (UBA5)	ENSP00000417879.2:n.948+77T>G
ENST00000494112.1:n.79T>G (UBA5)
ENST00000494238.6:c.780+77T>G (UBA5)	ENSP00000418807.2:n.780+77T>G
ENST00000632629.1:c.636+6454A>C (NPHP3-ACAD11)
NM_024818.3:c.948+77T>G (UBA5)	NP_079094.1:n.948+77T>G
NM_198329.2:c.780+77T>G (UBA5)	NP_938143.1:n.780+77T>G
NR_037804.1:n.3995+6454A>C (NPHP3-ACAD11)
XM_006713752.2:c.612+77T>G (UBA5)	XP_006713815.1:n.612+77T>G
XM_011513183.1:c.807+77T>G (UBA5)	XP_011511485.1:n.807+77T>G
XM_011513184.1:c.780+77T>G (UBA5)	XP_011511486.1:n.780+77T>G
XM_011513185.1:c.678+77T>G (UBA5)	XP_011511487.1:n.678+77T>G
NM_001320210.1:c.780+77T>G (UBA5)	NP_001307139.1:n.780+77T>G
NM_001321238.1:c.678+77T>G (UBA5)	NP_001308167.1:n.678+77T>G
NM_001321239.1:c.612+77T>G (UBA5)	NP_001308168.1:n.612+77T>G
NM_024818.4:c.948+77T>G (UBA5)	NP_079094.1:n.948+77T>G
NM_198329.3:c.780+77T>G (UBA5)	NP_938143.1:n.780+77T>G
XR_001740272.1:n.1415-145T>G (UBA5)
NM_024818.5:c.948+77T>G (UBA5)	NP_079094.1:n.948+77T>G
NM_001320210.2:c.780+77T>G (UBA5)	NP_001307139.1:n.780+77T>G
NM_001321238.2:c.678+77T>G (UBA5)	NP_001308167.1:n.678+77T>G
NM_024818.6:c.948+77T>G (UBA5) MANE Select	NP_079094.1:n.948+77T>G
NM_198329.4:c.780+77T>G (UBA5)	NP_938143.1:n.780+77T>G