Canonical Allele Identifier: CA354579205
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.132403621A>C (hg19) chr3:g.132684777A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132684777A>C , CM000665.2:g.132684777A>C GRCh38
NC_000003.11:g.132403621A>C , CM000665.1:g.132403621A>C GRCh37
NC_000003.10:g.133886311A>C NCBI36
NG_008130.1:g.42656T>G
NG_008130.2:g.42656T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*1255T>G (NPHP3) ENSP00000508078.1:n.*1255T>G
ENST00000337331.10:c.3347T>G (NPHP3) MANE Select ENSP00000338766.5:p.Leu1116Arg
ENST00000337331.9:c.3347T>G (NPHP3) ENSP00000338766.5:p.Leu1116Arg
ENST00000465756.5:c.*1255T>G (NPHP3) ENSP00000419907.1:n.*1255T>G
ENST00000471702.2:c.*1338T>G (NPHP3-ACAD11) ENSP00000419763.1:n.*1338T>G
ENST00000474871.5:n.2546T>G (NPHP3)
ENST00000490993.5:n.4072T>G (NPHP3)
ENST00000493732.5:n.47T>G (NPHP3)
NM_153240.4:c.3347T>G (NPHP3) NP_694972.3:p.Leu1116Arg
NR_037804.1:n.3353T>G (NPHP3-ACAD11)
NM_153240.5:c.3347T>G (NPHP3) MANE Select NP_694972.3:p.Leu1116Arg
Search 100 bp 5'
Search 100 bp 3'