Canonical Allele Identifier: CA354582970
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.132419209G>C (hg19) chr3:g.132700365G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700365G>C , CM000665.2:g.132700365G>C GRCh38
NC_000003.11:g.132419209G>C , CM000665.1:g.132419209G>C GRCh37
NC_000003.10:g.133901899G>C NCBI36
NG_008130.1:g.27068C>G
NG_008130.2:g.27068C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.1418C>G (NPHP3) ENSP00000508078.1:p.Ser473Cys
ENST00000337331.10:c.1712C>G (NPHP3) MANE Select ENSP00000338766.5:p.Ser571Cys
ENST00000337331.9:c.1712C>G (NPHP3) ENSP00000338766.5:p.Ser571Cys
ENST00000465756.5:c.1418C>G (NPHP3) ENSP00000419907.1:p.Ser473Cys
ENST00000469232.5:c.1527C>G (NPHP3) ENSP00000418664.1:n.1527C>G
ENST00000471702.2:c.1712C>G (NPHP3-ACAD11) ENSP00000419763.1:p.Ser571Cys
ENST00000490993.5:n.1488C>G (NPHP3)
NM_153240.4:c.1712C>G (NPHP3) NP_694972.3:p.Ser571Cys
NR_037804.1:n.1816C>G (NPHP3-ACAD11)
NM_153240.5:c.1712C>G (NPHP3) MANE Select NP_694972.3:p.Ser571Cys
Search 100 bp 5'
Search 100 bp 3'