Canonical Allele Identifier: CA1402651992

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689140C= , CM000665.2:g.132689140C=	GRCh38
NC_000003.11:g.132407984C= , CM000665.1:g.132407984C=	GRCh37
NC_000003.10:g.133890674C=	NCBI36
NG_008130.1:g.38293G=
NG_008130.2:g.38293G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*725G= (NPHP3)	ENSP00000508078.1:n.*725G=
ENST00000337331.10:c.2817G= (NPHP3) MANE Select	ENSP00000338766.5:p.Met939=
ENST00000337331.9:c.2817G= (NPHP3)	ENSP00000338766.5:p.Met939=
ENST00000465756.5:c.*725G= (NPHP3)	ENSP00000419907.1:n.*725G=
ENST00000471702.2:c.*808G= (NPHP3-ACAD11)	ENSP00000419763.1:n.*808G=
ENST00000474871.5:n.551G= (NPHP3)
ENST00000490993.5:n.3542G= (NPHP3)
NM_153240.4:c.2817G= (NPHP3)	NP_694972.3:p.Met939=
NR_037804.1:n.2823G= (NPHP3-ACAD11)
NM_153240.5:c.2817G= (NPHP3) MANE Select	NP_694972.3:p.Met939=