Canonical Allele Identifier: CA2621524

Gene: UBA5 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 1901834
• ClinVar RCV Id: RCV002577266
• dbSNP Id: rs552931444
• ExAC: 3:132394647 G / A
• gnomAD v2: 3-132394647-G-A
• gnomAD v3: 3-132675803-G-A
• gnomAD v4: 3-132675803-G-A
• MyVariant Identifiers: chr3:g.132394647G>A (hg19) ; chr3:g.132675803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675803G>A , CM000665.2:g.132675803G>A	GRCh38
NC_000003.11:g.132394647G>A , CM000665.1:g.132394647G>A	GRCh37
NC_000003.10:g.133877337G>A	NCBI36
NG_052968.1:g.26358G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1196-14G>A (UBA5)	ENSP00000507396.1:n.1196-14G>A
ENST00000356232.10:c.1025-14G>A (UBA5) MANE Select	ENSP00000348565.4:n.1025-14G>A
ENST00000264991.8:c.857-14G>A (UBA5)	ENSP00000264991.4:n.857-14G>A
ENST00000356232.8:c.1025-14G>A (UBA5)	ENSP00000348565.4:n.1025-14G>A
ENST00000468227.5:n.2456-14G>A (UBA5)
ENST00000471702.2:c.*1980+6111C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+6111C>T
ENST00000473651.5:c.1024+123G>A (UBA5)	ENSP00000424984.1:n.1024+123G>A
ENST00000493720.6:c.1025-14G>A (UBA5)	ENSP00000417879.2:n.1025-14G>A
ENST00000494112.1:n.300-14G>A (UBA5)
ENST00000494238.6:c.857-14G>A (UBA5)	ENSP00000418807.2:n.857-14G>A
ENST00000632629.1:c.636+6111C>T (NPHP3-ACAD11)
NM_024818.3:c.1025-14G>A (UBA5)	NP_079094.1:n.1025-14G>A
NM_198329.2:c.857-14G>A (UBA5)	NP_938143.1:n.857-14G>A
NR_037804.1:n.3995+6111C>T (NPHP3-ACAD11)
XM_006713752.2:c.689-14G>A (UBA5)	XP_006713815.1:n.689-14G>A
XM_011513183.1:c.884-14G>A (UBA5)	XP_011511485.1:n.884-14G>A
XM_011513184.1:c.857-14G>A (UBA5)	XP_011511486.1:n.857-14G>A
XM_011513185.1:c.755-14G>A (UBA5)	XP_011511487.1:n.755-14G>A
NM_001320210.1:c.857-14G>A (UBA5)	NP_001307139.1:n.857-14G>A
NM_001321238.1:c.755-14G>A (UBA5)	NP_001308167.1:n.755-14G>A
NM_001321239.1:c.689-14G>A (UBA5)	NP_001308168.1:n.689-14G>A
NM_024818.4:c.1025-14G>A (UBA5)	NP_079094.1:n.1025-14G>A
NM_198329.3:c.857-14G>A (UBA5)	NP_938143.1:n.857-14G>A
XR_001740272.1:n.1491-14G>A (UBA5)
NM_024818.5:c.1025-14G>A (UBA5)	NP_079094.1:n.1025-14G>A
NM_001320210.2:c.857-14G>A (UBA5)	NP_001307139.1:n.857-14G>A
NM_001321238.2:c.755-14G>A (UBA5)	NP_001308167.1:n.755-14G>A
NM_024818.6:c.1025-14G>A (UBA5) MANE Select	NP_079094.1:n.1025-14G>A
NM_198329.4:c.857-14G>A (UBA5)	NP_938143.1:n.857-14G>A