Canonical Allele Identifier: CA1402648296

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684716C= , CM000665.2:g.132684716C=	GRCh38
NC_000003.11:g.132403560C= , CM000665.1:g.132403560C=	GRCh37
NC_000003.10:g.133886250C=	NCBI36
NG_008130.1:g.42717G=
NG_008130.2:g.42717G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1316G= (NPHP3)	ENSP00000508078.1:n.*1316G=
ENST00000337331.10:c.3408G= (NPHP3) MANE Select	ENSP00000338766.5:p.Gln1136=
ENST00000337331.9:c.3408G= (NPHP3)	ENSP00000338766.5:p.Gln1136=
ENST00000465756.5:c.*1316G= (NPHP3)	ENSP00000419907.1:n.*1316G=
ENST00000471702.2:c.*1399G= (NPHP3-ACAD11)	ENSP00000419763.1:n.*1399G=
ENST00000474871.5:n.2607G= (NPHP3)
ENST00000490993.5:n.4133G= (NPHP3)
ENST00000493732.5:n.108G= (NPHP3)
ENST00000632629.1:c.55G= (NPHP3-ACAD11)
NM_153240.4:c.3408G= (NPHP3)	NP_694972.3:p.Gln1136=
NR_037804.1:n.3414G= (NPHP3-ACAD11)
NM_153240.5:c.3408G= (NPHP3) MANE Select	NP_694972.3:p.Gln1136=