Canonical Allele Identifier: CA1402651970

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689113G= , CM000665.2:g.132689113G=	GRCh38
NC_000003.11:g.132407957G= , CM000665.1:g.132407957G=	GRCh37
NC_000003.10:g.133890647G=	NCBI36
NG_008130.1:g.38320C=
NG_008130.2:g.38320C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*752C= (NPHP3)	ENSP00000508078.1:n.*752C=
ENST00000337331.10:c.2844C= (NPHP3) MANE Select	ENSP00000338766.5:p.Thr948=
ENST00000337331.9:c.2844C= (NPHP3)	ENSP00000338766.5:p.Thr948=
ENST00000465756.5:c.*752C= (NPHP3)	ENSP00000419907.1:n.*752C=
ENST00000471702.2:c.*835C= (NPHP3-ACAD11)	ENSP00000419763.1:n.*835C=
ENST00000474871.5:n.578C= (NPHP3)
ENST00000490993.5:n.3569C= (NPHP3)
NM_153240.4:c.2844C= (NPHP3)	NP_694972.3:p.Thr948=
NR_037804.1:n.2850C= (NPHP3-ACAD11)
NM_153240.5:c.2844C= (NPHP3) MANE Select	NP_694972.3:p.Thr948=