Canonical Allele Identifier: CA1402648129

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684592A= , CM000665.2:g.132684592A=	GRCh38
NC_000003.11:g.132403436A= , CM000665.1:g.132403436A=	GRCh37
NC_000003.10:g.133886126A=	NCBI36
NG_008130.1:g.42841T=
NG_008130.2:g.42841T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1440T= (NPHP3)	ENSP00000508078.1:n.*1440T=
ENST00000337331.10:c.3532T= (NPHP3) MANE Select	ENSP00000338766.5:p.Tyr1178=
ENST00000337331.9:c.3532T= (NPHP3)	ENSP00000338766.5:p.Tyr1178=
ENST00000465756.5:c.*1440T= (NPHP3)	ENSP00000419907.1:n.*1440T=
ENST00000471702.2:c.*1523T= (NPHP3-ACAD11)	ENSP00000419763.1:n.*1523T=
ENST00000474871.5:n.2731T= (NPHP3)
ENST00000490993.5:n.4257T= (NPHP3)
ENST00000493732.5:n.232T= (NPHP3)
ENST00000512094.5:c.94T= (NPHP3)	ENSP00000427666.1:p.Tyr32=
ENST00000632629.1:c.179T= (NPHP3-ACAD11)
NM_153240.4:c.3532T= (NPHP3)	NP_694972.3:p.Tyr1178=
NR_037804.1:n.3538T= (NPHP3-ACAD11)
NM_153240.5:c.3532T= (NPHP3) MANE Select	NP_694972.3:p.Tyr1178=