Canonical Allele Identifier: CA83579338
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

dbSNP Id: rs1035468440
MyVariant Identifiers: chr3:g.132399584G>T (hg19) chr3:g.132680740G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132680740G>T , CM000665.2:g.132680740G>T GRCh38
NC_000003.11:g.132399584G>T , CM000665.1:g.132399584G>T GRCh37
NC_000003.10:g.133882274G>T NCBI36
NG_008130.1:g.46693C>A
NG_008130.2:g.46693C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337331.10:c.*1170C>A (NPHP3) MANE Select ENSP00000338766.5:n.*1170C>A
ENST00000471702.2:c.*1980+1174C>A (NPHP3-ACAD11) ENSP00000419763.1:n.*1980+1174C>A
ENST00000474871.5:n.4362C>A (NPHP3)
ENST00000632629.1:c.636+1174C>A (NPHP3-ACAD11)
NM_153240.4:c.*1170C>A (NPHP3) NP_694972.3:n.*1170C>A
NR_037804.1:n.3995+1174C>A (NPHP3-ACAD11)
NM_153240.5:c.*1170C>A (NPHP3) MANE Select NP_694972.3:n.*1170C>A
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