Canonical Allele Identifier: CA354580672
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.132408098A>C (hg19) chr3:g.132689254A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132689254A>C , CM000665.2:g.132689254A>C GRCh38
NC_000003.11:g.132408098A>C , CM000665.1:g.132408098A>C GRCh37
NC_000003.10:g.133890788A>C NCBI36
NG_008130.1:g.38179T>G
NG_008130.2:g.38179T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*611T>G (NPHP3) ENSP00000508078.1:n.*611T>G
ENST00000337331.10:c.2703T>G (NPHP3) MANE Select ENSP00000338766.5:p.Phe901Leu
ENST00000337331.9:c.2703T>G (NPHP3) ENSP00000338766.5:p.Phe901Leu
ENST00000465756.5:c.*611T>G (NPHP3) ENSP00000419907.1:n.*611T>G
ENST00000471702.2:c.*694T>G (NPHP3-ACAD11) ENSP00000419763.1:n.*694T>G
ENST00000474871.5:n.437T>G (NPHP3)
ENST00000490993.5:n.3428T>G (NPHP3)
NM_153240.4:c.2703T>G (NPHP3) NP_694972.3:p.Phe901Leu
NR_037804.1:n.2709T>G (NPHP3-ACAD11)
NM_153240.5:c.2703T>G (NPHP3) MANE Select NP_694972.3:p.Phe901Leu
Search 100 bp 5'
Search 100 bp 3'