Canonical Allele Identifier: CA1402648418

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684784G= , CM000665.2:g.132684784G=	GRCh38
NC_000003.11:g.132403628G= , CM000665.1:g.132403628G=	GRCh37
NC_000003.10:g.133886318G=	NCBI36
NG_008130.1:g.42649C=
NG_008130.2:g.42649C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1248C= (NPHP3)	ENSP00000508078.1:n.*1248C=
ENST00000337331.10:c.3340C= (NPHP3) MANE Select	ENSP00000338766.5:p.Gln1114=
ENST00000337331.9:c.3340C= (NPHP3)	ENSP00000338766.5:p.Gln1114=
ENST00000465756.5:c.*1248C= (NPHP3)	ENSP00000419907.1:n.*1248C=
ENST00000471702.2:c.*1331C= (NPHP3-ACAD11)	ENSP00000419763.1:n.*1331C=
ENST00000474871.5:n.2539C= (NPHP3)
ENST00000490993.5:n.4065C= (NPHP3)
ENST00000493732.5:n.40C= (NPHP3)
NM_153240.4:c.3340C= (NPHP3)	NP_694972.3:p.Gln1114=
NR_037804.1:n.3346C= (NPHP3-ACAD11)
NM_153240.5:c.3340C= (NPHP3) MANE Select	NP_694972.3:p.Gln1114=