LDH info

Canonical Allele Identifier: CA2621285
Gene: UBA5 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265746
ClinVar RCV Id: RCV000254932
dbSNP Id: rs774318611

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132665825G>A , CM000665.2:g.132665825G>A GRCh38
NC_000003.11:g.132384669G>A , CM000665.1:g.132384669G>A GRCh37
NC_000003.10:g.133867359G>A NCBI36
NG_052968.1:g.16380G>A

Transcript Alleles

HGVS Amino-acid change
NM_024818.3:c.164G>A (UBA5) VV NP_079094.1:p.Arg55His
NM_198329.2:c.-5G>A (UBA5) VV NP_938143.1:p.=
NR_037804.1:n.3995+16089C>T (NPHP3-ACAD11)
XM_006713752.2:c.-39-2993G>A (UBA5) XP_006713815.1:p.=
XM_011513184.1:c.-5G>A (UBA5) XP_011511486.1:p.=
XM_011513185.1:c.28-2993G>A (UBA5) XP_011511487.1:p.=
NM_001320210.1:c.-5G>A (UBA5) VV NP_001307139.1:p.=
NM_001321238.1:c.28-2993G>A (UBA5) VV NP_001308167.1:p.=
NM_001321239.1:c.-39-2993G>A (UBA5) VV NP_001308168.1:p.=
NM_024818.4:c.164G>A (UBA5) VV NP_079094.1:p.Arg55His
NM_198329.3:c.-5G>A (UBA5) VV NP_938143.1:p.=
XR_001740272.1:n.766G>A (UBA5)
NM_024818.5:c.164G>A (UBA5) VV NP_079094.1:p.Arg55His
NM_001320210.2:c.-5G>A (UBA5) VV NP_001307139.1:p.=
NM_001321238.2:c.28-2993G>A (UBA5) VV NP_001308167.1:p.=
NM_024818.6:c.164G>A (UBA5) VV NP_079094.1:p.Arg55His
NM_198329.4:c.-5G>A (UBA5) VV NP_938143.1:p.=
ENST00000264991.8:c.-5G>A ENSP00000264991.4:p.=
ENST00000356232.8:c.164G>A ENSP00000348565.4:p.Arg55His
ENST00000464068.5:c.28-2993G>A ENSP00000420055.1:p.=
ENST00000464101.2:n.359G>A
ENST00000468022.5:c.-5G>A ENSP00000418569.1:p.=
ENST00000471702.2:c.*1980+16089C>T ENSP00000419763.1:p.=
ENST00000473651.5:c.164G>A ENSP00000424984.1:p.Arg55His
ENST00000489361.1:c.-5G>A ENSP00000417905.1:p.=
ENST00000493720.6:c.164G>A ENSP00000417879.2:p.Arg55His
ENST00000494238.6:c.-5G>A ENSP00000418807.2:p.=
ENST00000505777.5:c.162-2993G>A ENSP00000427233.1:p.=
ENST00000632629.1:n.636+16089C>T