Canonical Allele Identifier: CA1402644350
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

dbSNP Id: rs1939003722

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132680753T>C , CM000665.2:g.132680753T>C GRCh38
NC_000003.11:g.132399597T>C , CM000665.1:g.132399597T>C GRCh37
NC_000003.10:g.133882287T>C NCBI36
NG_008130.1:g.46680A>G
NG_008130.2:g.46680A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000337331.10:c.*1157A>G (NPHP3) MANE Select ENSP00000338766.5:n.*1157A>G
ENST00000471702.2:c.*1980+1161A>G (NPHP3-ACAD11) ENSP00000419763.1:n.*1980+1161A>G
ENST00000474871.5:n.4349A>G (NPHP3)
ENST00000632629.1:c.636+1161A>G (NPHP3-ACAD11)
NM_153240.4:c.*1157A>G (NPHP3) NP_694972.3:n.*1157A>G
NR_037804.1:n.3995+1161A>G (NPHP3-ACAD11)
NM_153240.5:c.*1157A>G (NPHP3) MANE Select NP_694972.3:n.*1157A>G