Canonical Allele Identifier: CA2621786

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132686302A>G , CM000665.2:g.132686302A>G	GRCh38
NC_000003.11:g.132405146A>G , CM000665.1:g.132405146A>G	GRCh37
NC_000003.10:g.133887836A>G	NCBI36
NG_008130.1:g.41131T>C
NG_008130.2:g.41131T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153240.5:c.3287T>C (NPHP3) MANE Select	NP_694972.3:p.Leu1096Pro
ENST00000337331.10:c.3287T>C (NPHP3) MANE Select	ENSP00000338766.5:p.Leu1096Pro
NM_153240.4:c.3287T>C (NPHP3)	NP_694972.3:p.Leu1096Pro
NR_037804.1:n.3293T>C (NPHP3-ACAD11)
ENST00000337331.9:c.3287T>C (NPHP3)	ENSP00000338766.5:p.Leu1096Pro
ENST00000465756.5:c.*1195T>C (NPHP3)	ENSP00000419907.1:n.*1195T>C
ENST00000471702.2:c.*1278T>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1278T>C
ENST00000474871.5:n.1021T>C (NPHP3)
ENST00000490993.5:n.4012T>C (NPHP3)
ENST00000684294.1:c.*1195T>C (NPHP3)	ENSP00000508078.1:n.*1195T>C