Canonical Allele Identifier: CA354572499

Gene: UBA5 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132384691G>T (hg19) ; chr3:g.132665847G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132665847G>T , CM000665.2:g.132665847G>T	GRCh38
NC_000003.11:g.132384691G>T , CM000665.1:g.132384691G>T	GRCh37
NC_000003.10:g.133867381G>T	NCBI36
NG_052968.1:g.16402G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.357G>T (UBA5)	ENSP00000507396.1:p.Met119Ile
ENST00000356232.10:c.186G>T (UBA5) MANE Select	ENSP00000348565.4:p.Met62Ile
ENST00000264991.8:c.18G>T (UBA5)	ENSP00000264991.4:p.Met6Ile
ENST00000356232.8:c.186G>T (UBA5)	ENSP00000348565.4:p.Met62Ile
ENST00000464068.5:c.28-2971G>T (UBA5)	ENSP00000420055.1:n.28-2971G>T
ENST00000464101.2:n.381G>T (UBA5)
ENST00000468022.5:c.18G>T (UBA5)	ENSP00000418569.1:p.Met6Ile
ENST00000471702.2:c.*1980+16067C>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+16067C>A
ENST00000473651.5:c.186G>T (UBA5)	ENSP00000424984.1:p.Met62Ile
ENST00000489361.1:c.18G>T (UBA5)	ENSP00000417905.1:p.Met6Ile
ENST00000493720.6:c.186G>T (UBA5)	ENSP00000417879.2:p.Met62Ile
ENST00000494238.6:c.18G>T (UBA5)	ENSP00000418807.2:p.Met6Ile
ENST00000505777.5:c.162-2971G>T (UBA5)	ENSP00000427233.1:n.162-2971G>T
ENST00000632629.1:c.636+16067C>A (NPHP3-ACAD11)
NM_024818.3:c.186G>T (UBA5)	NP_079094.1:p.Met62Ile
NM_198329.2:c.18G>T (UBA5)	NP_938143.1:p.Met6Ile
NR_037804.1:n.3995+16067C>A (NPHP3-ACAD11)
XM_006713752.2:c.-39-2971G>T (UBA5)	XP_006713815.1:n.-39-2971G>T
XM_011513184.1:c.18G>T (UBA5)	XP_011511486.1:p.Met6Ile
XM_011513185.1:c.28-2971G>T (UBA5)	XP_011511487.1:n.28-2971G>T
NM_001320210.1:c.18G>T (UBA5)	NP_001307139.1:p.Met6Ile
NM_001321238.1:c.28-2971G>T (UBA5)	NP_001308167.1:n.28-2971G>T
NM_001321239.1:c.-39-2971G>T (UBA5)	NP_001308168.1:n.-39-2971G>T
NM_024818.4:c.186G>T (UBA5)	NP_079094.1:p.Met62Ile
NM_198329.3:c.18G>T (UBA5)	NP_938143.1:p.Met6Ile
XR_001740272.1:n.788G>T (UBA5)
NM_024818.5:c.186G>T (UBA5)	NP_079094.1:p.Met62Ile
NM_001320210.2:c.18G>T (UBA5)	NP_001307139.1:p.Met6Ile
NM_001321238.2:c.28-2971G>T (UBA5)	NP_001308167.1:n.28-2971G>T
NM_024818.6:c.186G>T (UBA5) MANE Select	NP_079094.1:p.Met62Ile
NM_198329.4:c.18G>T (UBA5)	NP_938143.1:p.Met6Ile