LDH info

Canonical Allele Identifier: CA10588808
Gene: UBA5 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265751
ClinVar RCV Id: RCV000256096
dbSNP Id: rs886039758

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132675627_132675628insC , CM000665.2:g.132675627_132675628insC GRCh38
NC_000003.11:g.132394471_132394472insC , CM000665.1:g.132394471_132394472insC GRCh37
NC_000003.10:g.133877161_133877162insC NCBI36
NG_052968.1:g.26182_26183insC

Transcript Alleles

HGVS Amino-acid change
NM_024818.3:c.971_972insC (UBA5) VV NP_079094.1:p.Lys324AsnfsTer14
NM_198329.2:c.803_804insC (UBA5) VV NP_938143.1:p.Lys268AsnfsTer14
NR_037804.1:n.3995+6286_3995+6287insG (NPHP3-ACAD11)
XM_006713752.2:c.635_636insC (UBA5) XP_006713815.1:p.Lys212AsnfsTer14
XM_011513183.1:c.830_831insC (UBA5) XP_011511485.1:p.Lys277AsnfsTer14
XM_011513184.1:c.803_804insC (UBA5) XP_011511486.1:p.Lys268AsnfsTer14
XM_011513185.1:c.701_702insC (UBA5) XP_011511487.1:p.Lys234AsnfsTer14
NM_001320210.1:c.803_804insC (UBA5) VV NP_001307139.1:p.Lys268AsnfsTer14
NM_001321238.1:c.701_702insC (UBA5) VV NP_001308167.1:p.Lys234AsnfsTer14
NM_001321239.1:c.635_636insC (UBA5) VV NP_001308168.1:p.Lys212AsnfsTer14
NM_024818.4:c.971_972insC (UBA5) VV NP_079094.1:p.Lys324AsnfsTer14
NM_198329.3:c.803_804insC (UBA5) VV NP_938143.1:p.Lys268AsnfsTer14
XR_001740272.1:n.1437_1438insC (UBA5)
NM_024818.5:c.971_972insC (UBA5) VV NP_079094.1:p.Lys324AsnfsTer14
NM_001320210.2:c.803_804insC (UBA5) VV NP_001307139.1:p.Lys268AsnfsTer14
NM_001321238.2:c.701_702insC (UBA5) VV NP_001308167.1:p.Lys234AsnfsTer14
NM_024818.6:c.971_972insC (UBA5) VV NP_079094.1:p.Lys324AsnfsTer14
NM_198329.4:c.803_804insC (UBA5) VV NP_938143.1:p.Lys268AsnfsTer14
ENST00000264991.8:c.803_804insC ENSP00000264991.4:p.Lys268AsnfsTer14
ENST00000356232.8:c.971_972insC ENSP00000348565.4:p.Lys324AsnfsTer14
ENST00000468227.5:n.2402_2403insC
ENST00000471702.2:c.*1980+6286_*1980+6287insG ENSP00000419763.1:p.=
ENST00000473651.5:c.971_972insC ENSP00000424984.1:p.Lys324AsnfsTer14
ENST00000493720.6:c.971_972insC ENSP00000417879.2:p.Lys324AsnfsTer14
ENST00000494112.1:n.246_247insC
ENST00000494238.6:c.803_804insC ENSP00000418807.2:p.Lys268AsnfsTer14
ENST00000632629.1:n.636+6286_636+6287insG