Canonical Allele Identifier: CA1402637665
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

dbSNP Id: rs1214732818
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700269T>A , CM000665.2:g.132700269T>A GRCh38
NC_000003.11:g.132419113T>A , CM000665.1:g.132419113T>A GRCh37
NC_000003.10:g.133901803T>A NCBI36
NG_008130.1:g.27164A>T
NG_008130.2:g.27164A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684294.1:c.1449+65A>T (NPHP3) ENSP00000508078.1:n.1449+65A>T
ENST00000337331.10:c.1743+65A>T (NPHP3) MANE Select ENSP00000338766.5:n.1743+65A>T
ENST00000337331.9:c.1743+65A>T (NPHP3) ENSP00000338766.5:n.1743+65A>T
ENST00000465756.5:c.1449+65A>T (NPHP3) ENSP00000419907.1:n.1449+65A>T
ENST00000469232.5:c.1558+65A>T (NPHP3) ENSP00000418664.1:n.1558+65A>T
ENST00000471702.2:c.1743+65A>T (NPHP3-ACAD11) ENSP00000419763.1:n.1743+65A>T
ENST00000490993.5:n.1519+65A>T (NPHP3)
NM_153240.4:c.1743+65A>T (NPHP3) NP_694972.3:n.1743+65A>T
NR_037804.1:n.1847+65A>T (NPHP3-ACAD11)
NM_153240.5:c.1743+65A>T (NPHP3) MANE Select NP_694972.3:n.1743+65A>T
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