Canonical Allele Identifier: CA1402644327
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132680733A= , CM000665.2:g.132680733A= GRCh38
NC_000003.11:g.132399577A= , CM000665.1:g.132399577A= GRCh37
NC_000003.10:g.133882267A= NCBI36
NG_008130.1:g.46700T=
NG_008130.2:g.46700T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000337331.10:c.*1177T= (NPHP3) MANE Select ENSP00000338766.5:n.*1177T=
ENST00000471702.2:c.*1980+1181T= (NPHP3-ACAD11) ENSP00000419763.1:n.*1980+1181T=
ENST00000474871.5:n.4369T= (NPHP3)
ENST00000632629.1:c.636+1181T= (NPHP3-ACAD11)
NM_153240.4:c.*1177T= (NPHP3) NP_694972.3:n.*1177T=
NR_037804.1:n.3995+1181T= (NPHP3-ACAD11)
NM_153240.5:c.*1177T= (NPHP3) MANE Select NP_694972.3:n.*1177T=
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