Canonical Allele Identifier: CA2621597

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681967C>T , CM000665.2:g.132681967C>T	GRCh38
NC_000003.11:g.132400811C>T , CM000665.1:g.132400811C>T	GRCh37
NC_000003.10:g.133883501C>T	NCBI36
NG_008130.1:g.45466G>A
NG_008130.2:g.45466G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153240.5:c.3936G>A (NPHP3) MANE Select	NP_694972.3:p.Thr1312=
ENST00000337331.10:c.3936G>A (NPHP3) MANE Select	ENSP00000338766.5:p.Thr1312=
NM_153240.4:c.3936G>A (NPHP3)	NP_694972.3:p.Thr1312=
NR_037804.1:n.3942G>A (NPHP3-ACAD11)
ENST00000337331.9:c.3936G>A (NPHP3)	ENSP00000338766.5:p.Thr1312=
ENST00000465756.5:c.*1844G>A (NPHP3)	ENSP00000419907.1:n.*1844G>A
ENST00000471702.2:c.*1927G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1927G>A
ENST00000474871.5:n.3135G>A (NPHP3)
ENST00000490993.5:n.4661G>A (NPHP3)
ENST00000493732.5:n.1248G>A (NPHP3)
ENST00000512094.5:c.382G>A (NPHP3)	ENSP00000427666.1:n.382G>A
ENST00000632629.1:c.583G>A (NPHP3-ACAD11)
ENST00000684294.1:c.*1864G>A (NPHP3)	ENSP00000508078.1:n.*1864G>A