Canonical Allele Identifier: CA435797365
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.132419285A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700441A>G , CM000665.2:g.132700441A>G GRCh38
NC_000003.11:g.132419285A>G , CM000665.1:g.132419285A>G GRCh37
NC_000003.10:g.133901975A>G NCBI36
NG_008130.1:g.26992T>C
NG_008130.2:g.26992T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.1342T>C (NPHP3) ENSP00000508078.1:p.Leu448=
ENST00000337331.10:c.1636T>C (NPHP3) MANE Select ENSP00000338766.5:p.Leu546=
ENST00000337331.9:c.1636T>C (NPHP3) ENSP00000338766.5:p.Leu546=
ENST00000465756.5:c.1342T>C (NPHP3) ENSP00000419907.1:p.Leu448=
ENST00000469232.5:c.1451T>C (NPHP3) ENSP00000418664.1:n.1451T>C
ENST00000471702.2:c.1636T>C (NPHP3-ACAD11) ENSP00000419763.1:p.Leu546=
ENST00000490993.5:n.1412T>C (NPHP3)
NM_153240.4:c.1636T>C (NPHP3) NP_694972.3:p.Leu546=
NR_037804.1:n.1740T>C (NPHP3-ACAD11)
NM_153240.5:c.1636T>C (NPHP3) MANE Select NP_694972.3:p.Leu546=
Search 100 bp 5'
Search 100 bp 3'