Canonical Allele Identifier: CA354577160

Gene: UBA5 NPHP3-ACAD11

Linked Data

• COSMIC: COSM4949912
• MyVariant Identifiers: chr3:g.132395324C>G (hg19) ; chr3:g.132676480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132676480C>G , CM000665.2:g.132676480C>G	GRCh38
NC_000003.11:g.132395324C>G , CM000665.1:g.132395324C>G	GRCh37
NC_000003.10:g.133878014C>G	NCBI36
NG_052968.1:g.27035C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1340C>G (UBA5)	ENSP00000507396.1:p.Ser447Cys
ENST00000356232.10:c.1169C>G (UBA5) MANE Select	ENSP00000348565.4:p.Ser390Cys
ENST00000264991.8:c.1001C>G (UBA5)	ENSP00000264991.4:p.Ser334Cys
ENST00000356232.8:c.1169C>G (UBA5)	ENSP00000348565.4:p.Ser390Cys
ENST00000468227.5:n.2600C>G (UBA5)
ENST00000471702.2:c.*1980+5434G>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+5434G>C
ENST00000473651.5:c.*18C>G (UBA5)	ENSP00000424984.1:n.*18C>G
ENST00000493720.6:c.1132-375C>G (UBA5)	ENSP00000417879.2:n.1132-375C>G
ENST00000494112.1:n.444C>G (UBA5)
ENST00000494238.6:c.1001C>G (UBA5)	ENSP00000418807.2:p.Ser334Cys
ENST00000632629.1:c.636+5434G>C (NPHP3-ACAD11)
NM_024818.3:c.1169C>G (UBA5)	NP_079094.1:p.Ser390Cys
NM_198329.2:c.1001C>G (UBA5)	NP_938143.1:p.Ser334Cys
NR_037804.1:n.3995+5434G>C (NPHP3-ACAD11)
XM_006713752.2:c.833C>G (UBA5)	XP_006713815.1:p.Ser278Cys
XM_011513183.1:c.1028C>G (UBA5)	XP_011511485.1:p.Ser343Cys
XM_011513184.1:c.1001C>G (UBA5)	XP_011511486.1:p.Ser334Cys
XM_011513185.1:c.899C>G (UBA5)	XP_011511487.1:p.Ser300Cys
NM_001320210.1:c.1001C>G (UBA5)	NP_001307139.1:p.Ser334Cys
NM_001321238.1:c.899C>G (UBA5)	NP_001308167.1:p.Ser300Cys
NM_001321239.1:c.833C>G (UBA5)	NP_001308168.1:p.Ser278Cys
NM_024818.4:c.1169C>G (UBA5)	NP_079094.1:p.Ser390Cys
NM_198329.3:c.1001C>G (UBA5)	NP_938143.1:p.Ser334Cys
XR_001740272.1:n.1635C>G (UBA5)
NM_024818.5:c.1169C>G (UBA5)	NP_079094.1:p.Ser390Cys
NM_001320210.2:c.1001C>G (UBA5)	NP_001307139.1:p.Ser334Cys
NM_001321238.2:c.899C>G (UBA5)	NP_001308167.1:p.Ser300Cys
NM_024818.6:c.1169C>G (UBA5) MANE Select	NP_079094.1:p.Ser390Cys
NM_198329.4:c.1001C>G (UBA5)	NP_938143.1:p.Ser334Cys