Canonical Allele Identifier: CA354580506
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.132408028A>C (hg19) chr3:g.132689184A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132689184A>C , CM000665.2:g.132689184A>C GRCh38
NC_000003.11:g.132408028A>C , CM000665.1:g.132408028A>C GRCh37
NC_000003.10:g.133890718A>C NCBI36
NG_008130.1:g.38249T>G
NG_008130.2:g.38249T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*681T>G (NPHP3) ENSP00000508078.1:n.*681T>G
ENST00000337331.10:c.2773T>G (NPHP3) MANE Select ENSP00000338766.5:p.Ser925Ala
ENST00000337331.9:c.2773T>G (NPHP3) ENSP00000338766.5:p.Ser925Ala
ENST00000465756.5:c.*681T>G (NPHP3) ENSP00000419907.1:n.*681T>G
ENST00000471702.2:c.*764T>G (NPHP3-ACAD11) ENSP00000419763.1:n.*764T>G
ENST00000474871.5:n.507T>G (NPHP3)
ENST00000490993.5:n.3498T>G (NPHP3)
NM_153240.4:c.2773T>G (NPHP3) NP_694972.3:p.Ser925Ala
NR_037804.1:n.2779T>G (NPHP3-ACAD11)
NM_153240.5:c.2773T>G (NPHP3) MANE Select NP_694972.3:p.Ser925Ala
Search 100 bp 5'
Search 100 bp 3'