Canonical Allele Identifier: CA83610480
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
NPHP3-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs531419452

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132721904G>A , CM000665.2:g.132721904G>A GRCh38
NC_000003.11:g.132440748G>A , CM000665.1:g.132440748G>A GRCh37
NC_000003.10:g.133923438G>A NCBI36
NG_008130.1:g.5529C>T
NG_008130.2:g.5529C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683570.1:c.452C>T (NPHP3) ENSP00000508409.1:p.Ser151Phe
ENST00000684294.1:c.99+353C>T (NPHP3) ENSP00000508078.1:n.99+353C>T
ENST00000684756.1:n.116+59C>T (NPHP3)
ENST00000337331.10:c.393+59C>T (NPHP3) MANE Select ENSP00000338766.5:n.393+59C>T
ENST00000337331.9:c.393+59C>T (NPHP3) ENSP00000338766.5:n.393+59C>T
ENST00000383282.3:c.393+59C>T (NPHP3-ACAD11) ENSP00000372769.2:n.393+59C>T
ENST00000465756.5:c.99+353C>T (NPHP3) ENSP00000419907.1:n.99+353C>T
ENST00000469232.5:c.45+59C>T (NPHP3) ENSP00000418664.1:n.45+59C>T
ENST00000471702.2:c.393+59C>T (NPHP3-ACAD11) ENSP00000419763.1:n.393+59C>T
NM_153240.4:c.393+59C>T (NPHP3) NP_694972.3:n.393+59C>T
NR_037804.1:n.497+59C>T (NPHP3-ACAD11)
NR_002811.2:n.155G>A (NPHP3-AS1)
NR_152743.1:n.155G>A (NPHP3-AS1)
NM_153240.5:c.393+59C>T (NPHP3) MANE Select NP_694972.3:n.393+59C>T