Canonical Allele Identifier: CA1402655836
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
NPHP3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132721917G= , CM000665.2:g.132721917G= GRCh38
NC_000003.11:g.132440761G= , CM000665.1:g.132440761G= GRCh37
NC_000003.10:g.133923451G= NCBI36
NG_008130.1:g.5516C=
NG_008130.2:g.5516C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683570.1:c.439C= (NPHP3) ENSP00000508409.1:p.Arg147=
ENST00000684294.1:c.99+340C= (NPHP3) ENSP00000508078.1:n.99+340C=
ENST00000684756.1:n.116+46C= (NPHP3)
ENST00000337331.10:c.393+46C= (NPHP3) MANE Select ENSP00000338766.5:n.393+46C=
ENST00000337331.9:c.393+46C= (NPHP3) ENSP00000338766.5:n.393+46C=
ENST00000383282.3:c.393+46C= (NPHP3-ACAD11) ENSP00000372769.2:n.393+46C=
ENST00000465756.5:c.99+340C= (NPHP3) ENSP00000419907.1:n.99+340C=
ENST00000469232.5:c.45+46C= (NPHP3) ENSP00000418664.1:n.45+46C=
ENST00000471702.2:c.393+46C= (NPHP3-ACAD11) ENSP00000419763.1:n.393+46C=
NM_153240.4:c.393+46C= (NPHP3) NP_694972.3:n.393+46C=
NR_037804.1:n.497+46C= (NPHP3-ACAD11)
NR_002811.2:n.168G= (NPHP3-AS1)
NR_152743.1:n.168G= (NPHP3-AS1)
NM_153240.5:c.393+46C= (NPHP3) MANE Select NP_694972.3:n.393+46C=