Canonical Allele Identifier: CA354583134
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.132419284A>T (hg19) chr3:g.132700440A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700440A>T , CM000665.2:g.132700440A>T GRCh38
NC_000003.11:g.132419284A>T , CM000665.1:g.132419284A>T GRCh37
NC_000003.10:g.133901974A>T NCBI36
NG_008130.1:g.26993T>A
NG_008130.2:g.26993T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.1343T>A (NPHP3) ENSP00000508078.1:p.Leu448Ter
ENST00000337331.10:c.1637T>A (NPHP3) MANE Select ENSP00000338766.5:p.Leu546Ter
ENST00000337331.9:c.1637T>A (NPHP3) ENSP00000338766.5:p.Leu546Ter
ENST00000465756.5:c.1343T>A (NPHP3) ENSP00000419907.1:p.Leu448Ter
ENST00000469232.5:c.1452T>A (NPHP3) ENSP00000418664.1:n.1452T>A
ENST00000471702.2:c.1637T>A (NPHP3-ACAD11) ENSP00000419763.1:p.Leu546Ter
ENST00000490993.5:n.1413T>A (NPHP3)
NM_153240.4:c.1637T>A (NPHP3) NP_694972.3:p.Leu546Ter
NR_037804.1:n.1741T>A (NPHP3-ACAD11)
NM_153240.5:c.1637T>A (NPHP3) MANE Select NP_694972.3:p.Leu546Ter
Search 100 bp 5'
Search 100 bp 3'