Canonical Allele Identifier: CA435800338

Gene: UBA5 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132394752C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675908C>T , CM000665.2:g.132675908C>T	GRCh38
NC_000003.11:g.132394752C>T , CM000665.1:g.132394752C>T	GRCh37
NC_000003.10:g.133877442C>T	NCBI36
NG_052968.1:g.26463C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.1287C>T (UBA5)	ENSP00000507396.1:p.Tyr429=
ENST00000356232.10:c.1116C>T (UBA5) MANE Select	ENSP00000348565.4:p.Tyr372=
ENST00000264991.8:c.948C>T (UBA5)	ENSP00000264991.4:p.Tyr316=
ENST00000356232.8:c.1116C>T (UBA5)	ENSP00000348565.4:p.Tyr372=
ENST00000468227.5:n.2547C>T (UBA5)
ENST00000471702.2:c.*1980+6006G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+6006G>A
ENST00000473651.5:c.1024+228C>T (UBA5)	ENSP00000424984.1:n.1024+228C>T
ENST00000493720.6:c.1116C>T (UBA5)	ENSP00000417879.2:p.Tyr372=
ENST00000494112.1:n.391C>T (UBA5)
ENST00000494238.6:c.948C>T (UBA5)	ENSP00000418807.2:p.Tyr316=
ENST00000632629.1:c.636+6006G>A (NPHP3-ACAD11)
NM_024818.3:c.1116C>T (UBA5)	NP_079094.1:p.Tyr372=
NM_198329.2:c.948C>T (UBA5)	NP_938143.1:p.Tyr316=
NR_037804.1:n.3995+6006G>A (NPHP3-ACAD11)
XM_006713752.2:c.780C>T (UBA5)	XP_006713815.1:p.Tyr260=
XM_011513183.1:c.975C>T (UBA5)	XP_011511485.1:p.Tyr325=
XM_011513184.1:c.948C>T (UBA5)	XP_011511486.1:p.Tyr316=
XM_011513185.1:c.846C>T (UBA5)	XP_011511487.1:p.Tyr282=
NM_001320210.1:c.948C>T (UBA5)	NP_001307139.1:p.Tyr316=
NM_001321238.1:c.846C>T (UBA5)	NP_001308167.1:p.Tyr282=
NM_001321239.1:c.780C>T (UBA5)	NP_001308168.1:p.Tyr260=
NM_024818.4:c.1116C>T (UBA5)	NP_079094.1:p.Tyr372=
NM_198329.3:c.948C>T (UBA5)	NP_938143.1:p.Tyr316=
XR_001740272.1:n.1582C>T (UBA5)
NM_024818.5:c.1116C>T (UBA5)	NP_079094.1:p.Tyr372=
NM_001320210.2:c.948C>T (UBA5)	NP_001307139.1:p.Tyr316=
NM_001321238.2:c.846C>T (UBA5)	NP_001308167.1:p.Tyr282=
NM_024818.6:c.1116C>T (UBA5) MANE Select	NP_079094.1:p.Tyr372=
NM_198329.4:c.948C>T (UBA5)	NP_938143.1:p.Tyr316=