Canonical Allele Identifier: CA354583117
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.132419278T>C (hg19) chr3:g.132700434T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700434T>C , CM000665.2:g.132700434T>C GRCh38
NC_000003.11:g.132419278T>C , CM000665.1:g.132419278T>C GRCh37
NC_000003.10:g.133901968T>C NCBI36
NG_008130.1:g.26999A>G
NG_008130.2:g.26999A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.1349A>G (NPHP3) ENSP00000508078.1:p.Gln450Arg
ENST00000337331.10:c.1643A>G (NPHP3) MANE Select ENSP00000338766.5:p.Gln548Arg
ENST00000337331.9:c.1643A>G (NPHP3) ENSP00000338766.5:p.Gln548Arg
ENST00000465756.5:c.1349A>G (NPHP3) ENSP00000419907.1:p.Gln450Arg
ENST00000469232.5:c.1458A>G (NPHP3) ENSP00000418664.1:n.1458A>G
ENST00000471702.2:c.1643A>G (NPHP3-ACAD11) ENSP00000419763.1:p.Gln548Arg
ENST00000490993.5:n.1419A>G (NPHP3)
NM_153240.4:c.1643A>G (NPHP3) NP_694972.3:p.Gln548Arg
NR_037804.1:n.1747A>G (NPHP3-ACAD11)
NM_153240.5:c.1643A>G (NPHP3) MANE Select NP_694972.3:p.Gln548Arg
Search 100 bp 5'
Search 100 bp 3'