Canonical Allele Identifier: CA354580331
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

dbSNP Id: rs1939235800
MyVariant Identifiers: chr3:g.132407953C>G (hg19) chr3:g.132689109C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132689109C>G , CM000665.2:g.132689109C>G GRCh38
NC_000003.11:g.132407953C>G , CM000665.1:g.132407953C>G GRCh37
NC_000003.10:g.133890643C>G NCBI36
NG_008130.1:g.38324G>C
NG_008130.2:g.38324G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*756G>C (NPHP3) ENSP00000508078.1:n.*756G>C
ENST00000337331.10:c.2848G>C (NPHP3) MANE Select ENSP00000338766.5:p.Gly950Arg
ENST00000337331.9:c.2848G>C (NPHP3) ENSP00000338766.5:p.Gly950Arg
ENST00000465756.5:c.*756G>C (NPHP3) ENSP00000419907.1:n.*756G>C
ENST00000471702.2:c.*839G>C (NPHP3-ACAD11) ENSP00000419763.1:n.*839G>C
ENST00000474871.5:n.582G>C (NPHP3)
ENST00000490993.5:n.3573G>C (NPHP3)
NM_153240.4:c.2848G>C (NPHP3) NP_694972.3:p.Gly950Arg
NR_037804.1:n.2854G>C (NPHP3-ACAD11)
NM_153240.5:c.2848G>C (NPHP3) MANE Select NP_694972.3:p.Gly950Arg
Search 100 bp 5'
Search 100 bp 3'