Canonical Allele Identifier: CA1402645402

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681948G= , CM000665.2:g.132681948G=	GRCh38
NC_000003.11:g.132400792G= , CM000665.1:g.132400792G=	GRCh37
NC_000003.10:g.133883482G=	NCBI36
NG_008130.1:g.45485C=
NG_008130.2:g.45485C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1883C= (NPHP3)	ENSP00000508078.1:n.*1883C=
ENST00000337331.10:c.3955C= (NPHP3) MANE Select	ENSP00000338766.5:p.His1319=
ENST00000337331.9:c.3955C= (NPHP3)	ENSP00000338766.5:p.His1319=
ENST00000465756.5:c.*1863C= (NPHP3)	ENSP00000419907.1:n.*1863C=
ENST00000471702.2:c.*1946C= (NPHP3-ACAD11)	ENSP00000419763.1:n.*1946C=
ENST00000474871.5:n.3154C= (NPHP3)
ENST00000490993.5:n.4680C= (NPHP3)
ENST00000493732.5:n.1267C= (NPHP3)
ENST00000512094.5:c.401C= (NPHP3)	ENSP00000427666.1:n.401C=
ENST00000632629.1:c.602C= (NPHP3-ACAD11)
NM_153240.4:c.3955C= (NPHP3)	NP_694972.3:p.His1319=
NR_037804.1:n.3961C= (NPHP3-ACAD11)
NM_153240.5:c.3955C= (NPHP3) MANE Select	NP_694972.3:p.His1319=