Canonical Allele Identifier: CA354577944

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132400834G>T (hg19) ; chr3:g.132681990G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681990G>T , CM000665.2:g.132681990G>T	GRCh38
NC_000003.11:g.132400834G>T , CM000665.1:g.132400834G>T	GRCh37
NC_000003.10:g.133883524G>T	NCBI36
NG_008130.1:g.45443C>A
NG_008130.2:g.45443C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1841C>A (NPHP3)	ENSP00000508078.1:n.*1841C>A
ENST00000337331.10:c.3913C>A (NPHP3) MANE Select	ENSP00000338766.5:p.Arg1305Ser
ENST00000337331.9:c.3913C>A (NPHP3)	ENSP00000338766.5:p.Arg1305Ser
ENST00000465756.5:c.*1821C>A (NPHP3)	ENSP00000419907.1:n.*1821C>A
ENST00000471702.2:c.*1904C>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1904C>A
ENST00000474871.5:n.3112C>A (NPHP3)
ENST00000490993.5:n.4638C>A (NPHP3)
ENST00000493732.5:n.1225C>A (NPHP3)
ENST00000512094.5:c.359C>A (NPHP3)	ENSP00000427666.1:n.359C>A
ENST00000632629.1:c.560C>A (NPHP3-ACAD11)
NM_153240.4:c.3913C>A (NPHP3)	NP_694972.3:p.Arg1305Ser
NR_037804.1:n.3919C>A (NPHP3-ACAD11)
NM_153240.5:c.3913C>A (NPHP3) MANE Select	NP_694972.3:p.Arg1305Ser