Canonical Allele Identifier: CA1402651894
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132689058G= , CM000665.2:g.132689058G= GRCh38
NC_000003.11:g.132407902G= , CM000665.1:g.132407902G= GRCh37
NC_000003.10:g.133890592G= NCBI36
NG_008130.1:g.38375C=
NG_008130.2:g.38375C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*791+16C= (NPHP3) ENSP00000508078.1:n.*791+16C=
ENST00000337331.10:c.2883+16C= (NPHP3) MANE Select ENSP00000338766.5:n.2883+16C=
ENST00000337331.9:c.2883+16C= (NPHP3) ENSP00000338766.5:n.2883+16C=
ENST00000465756.5:c.*791+16C= (NPHP3) ENSP00000419907.1:n.*791+16C=
ENST00000471702.2:c.*874+16C= (NPHP3-ACAD11) ENSP00000419763.1:n.*874+16C=
ENST00000474871.5:n.617+16C= (NPHP3)
ENST00000490993.5:n.3608+16C= (NPHP3)
NM_153240.4:c.2883+16C= (NPHP3) NP_694972.3:n.2883+16C=
NR_037804.1:n.2889+16C= (NPHP3-ACAD11)
NM_153240.5:c.2883+16C= (NPHP3) MANE Select NP_694972.3:n.2883+16C=
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