Canonical Allele Identifier: CA354579030

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132403538G>T (hg19) ; chr3:g.132684694G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684694G>T , CM000665.2:g.132684694G>T	GRCh38
NC_000003.11:g.132403538G>T , CM000665.1:g.132403538G>T	GRCh37
NC_000003.10:g.133886228G>T	NCBI36
NG_008130.1:g.42739C>A
NG_008130.2:g.42739C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1338C>A (NPHP3)	ENSP00000508078.1:n.*1338C>A
ENST00000337331.10:c.3430C>A (NPHP3) MANE Select	ENSP00000338766.5:p.Leu1144Ile
ENST00000337331.9:c.3430C>A (NPHP3)	ENSP00000338766.5:p.Leu1144Ile
ENST00000465756.5:c.*1338C>A (NPHP3)	ENSP00000419907.1:n.*1338C>A
ENST00000471702.2:c.*1421C>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1421C>A
ENST00000474871.5:n.2629C>A (NPHP3)
ENST00000490993.5:n.4155C>A (NPHP3)
ENST00000493732.5:n.130C>A (NPHP3)
ENST00000632629.1:c.77C>A (NPHP3-ACAD11)
NM_153240.4:c.3430C>A (NPHP3)	NP_694972.3:p.Leu1144Ile
NR_037804.1:n.3436C>A (NPHP3-ACAD11)
NM_153240.5:c.3430C>A (NPHP3) MANE Select	NP_694972.3:p.Leu1144Ile