Canonical Allele Identifier: CA1402645669
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132682093T= , CM000665.2:g.132682093T= GRCh38
NC_000003.11:g.132400937T= , CM000665.1:g.132400937T= GRCh37
NC_000003.10:g.133883627T= NCBI36
NG_008130.1:g.45340A=
NG_008130.2:g.45340A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*1741-3A= (NPHP3) ENSP00000508078.1:n.*1741-3A=
ENST00000337331.10:c.3813-3A= (NPHP3) MANE Select ENSP00000338766.5:n.3813-3A=
ENST00000337331.9:c.3813-3A= (NPHP3) ENSP00000338766.5:n.3813-3A=
ENST00000465756.5:c.*1721-3A= (NPHP3) ENSP00000419907.1:n.*1721-3A=
ENST00000471702.2:c.*1804-3A= (NPHP3-ACAD11) ENSP00000419763.1:n.*1804-3A=
ENST00000474871.5:n.3012-3A= (NPHP3)
ENST00000490993.5:n.4538-3A= (NPHP3)
ENST00000493732.5:n.1122A= (NPHP3)
ENST00000512094.5:c.259-3A= (NPHP3) ENSP00000427666.1:n.259-3A=
ENST00000632629.1:c.460-3A= (NPHP3-ACAD11)
NM_153240.4:c.3813-3A= (NPHP3) NP_694972.3:n.3813-3A=
NR_037804.1:n.3819-3A= (NPHP3-ACAD11)
NM_153240.5:c.3813-3A= (NPHP3) MANE Select NP_694972.3:n.3813-3A=