Canonical Allele Identifier: CA435783761

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132403458A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684614A>C , CM000665.2:g.132684614A>C	GRCh38
NC_000003.11:g.132403458A>C , CM000665.1:g.132403458A>C	GRCh37
NC_000003.10:g.133886148A>C	NCBI36
NG_008130.1:g.42819T>G
NG_008130.2:g.42819T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1418T>G (NPHP3)	ENSP00000508078.1:n.*1418T>G
ENST00000337331.10:c.3510T>G (NPHP3) MANE Select	ENSP00000338766.5:p.Ala1170=
ENST00000337331.9:c.3510T>G (NPHP3)	ENSP00000338766.5:p.Ala1170=
ENST00000465756.5:c.*1418T>G (NPHP3)	ENSP00000419907.1:n.*1418T>G
ENST00000471702.2:c.*1501T>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1501T>G
ENST00000474871.5:n.2709T>G (NPHP3)
ENST00000490993.5:n.4235T>G (NPHP3)
ENST00000493732.5:n.210T>G (NPHP3)
ENST00000512094.5:c.72T>G (NPHP3)	ENSP00000427666.1:p.Ala24=
ENST00000632629.1:c.157T>G (NPHP3-ACAD11)
NM_153240.4:c.3510T>G (NPHP3)	NP_694972.3:p.Ala1170=
NR_037804.1:n.3516T>G (NPHP3-ACAD11)
NM_153240.5:c.3510T>G (NPHP3) MANE Select	NP_694972.3:p.Ala1170=