Canonical Allele Identifier: CA83612210

Gene: UBA5 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs759446670
• gnomAD v3: 3-132675545-T-C
• gnomAD v4: 3-132675545-T-C
• MyVariant Identifiers: chr3:g.132394389T>C (hg19) ; chr3:g.132675545T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675545T>C , CM000665.2:g.132675545T>C	GRCh38
NC_000003.11:g.132394389T>C , CM000665.1:g.132394389T>C	GRCh37
NC_000003.10:g.133877079T>C	NCBI36
NG_052968.1:g.26100T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1120-60T>C (UBA5)	ENSP00000507396.1:n.1120-60T>C
ENST00000356232.10:c.949-60T>C (UBA5) MANE Select	ENSP00000348565.4:n.949-60T>C
ENST00000264991.8:c.781-60T>C (UBA5)	ENSP00000264991.4:n.781-60T>C
ENST00000356232.8:c.949-60T>C (UBA5)	ENSP00000348565.4:n.949-60T>C
ENST00000468227.5:n.2380-60T>C (UBA5)
ENST00000471702.2:c.*1980+6369A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+6369A>G
ENST00000473651.5:c.949-60T>C (UBA5)	ENSP00000424984.1:n.949-60T>C
ENST00000493720.6:c.949-60T>C (UBA5)	ENSP00000417879.2:n.949-60T>C
ENST00000494112.1:n.164T>C (UBA5)
ENST00000494238.6:c.781-60T>C (UBA5)	ENSP00000418807.2:n.781-60T>C
ENST00000632629.1:c.636+6369A>G (NPHP3-ACAD11)
NM_024818.3:c.949-60T>C (UBA5)	NP_079094.1:n.949-60T>C
NM_198329.2:c.781-60T>C (UBA5)	NP_938143.1:n.781-60T>C
NR_037804.1:n.3995+6369A>G (NPHP3-ACAD11)
XM_006713752.2:c.613-60T>C (UBA5)	XP_006713815.1:n.613-60T>C
XM_011513183.1:c.808-60T>C (UBA5)	XP_011511485.1:n.808-60T>C
XM_011513184.1:c.781-60T>C (UBA5)	XP_011511486.1:n.781-60T>C
XM_011513185.1:c.679-60T>C (UBA5)	XP_011511487.1:n.679-60T>C
NM_001320210.1:c.781-60T>C (UBA5)	NP_001307139.1:n.781-60T>C
NM_001321238.1:c.679-60T>C (UBA5)	NP_001308167.1:n.679-60T>C
NM_001321239.1:c.613-60T>C (UBA5)	NP_001308168.1:n.613-60T>C
NM_024818.4:c.949-60T>C (UBA5)	NP_079094.1:n.949-60T>C
NM_198329.3:c.781-60T>C (UBA5)	NP_938143.1:n.781-60T>C
XR_001740272.1:n.1415-60T>C (UBA5)
NM_024818.5:c.949-60T>C (UBA5)	NP_079094.1:n.949-60T>C
NM_001320210.2:c.781-60T>C (UBA5)	NP_001307139.1:n.781-60T>C
NM_001321238.2:c.679-60T>C (UBA5)	NP_001308167.1:n.679-60T>C
NM_024818.6:c.949-60T>C (UBA5) MANE Select	NP_079094.1:n.949-60T>C
NM_198329.4:c.781-60T>C (UBA5)	NP_938143.1:n.781-60T>C