Canonical Allele Identifier: CA354577945

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132400836G>A (hg19) ; chr3:g.132681992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681992G>A , CM000665.2:g.132681992G>A	GRCh38
NC_000003.11:g.132400836G>A , CM000665.1:g.132400836G>A	GRCh37
NC_000003.10:g.133883526G>A	NCBI36
NG_008130.1:g.45441C>T
NG_008130.2:g.45441C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1839C>T (NPHP3)	ENSP00000508078.1:n.*1839C>T
ENST00000337331.10:c.3911C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Ser1304Leu
ENST00000337331.9:c.3911C>T (NPHP3)	ENSP00000338766.5:p.Ser1304Leu
ENST00000465756.5:c.*1819C>T (NPHP3)	ENSP00000419907.1:n.*1819C>T
ENST00000471702.2:c.*1902C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1902C>T
ENST00000474871.5:n.3110C>T (NPHP3)
ENST00000490993.5:n.4636C>T (NPHP3)
ENST00000493732.5:n.1223C>T (NPHP3)
ENST00000512094.5:c.357C>T (NPHP3)	ENSP00000427666.1:n.357C>T
ENST00000632629.1:c.558C>T (NPHP3-ACAD11)
NM_153240.4:c.3911C>T (NPHP3)	NP_694972.3:p.Ser1304Leu
NR_037804.1:n.3917C>T (NPHP3-ACAD11)
NM_153240.5:c.3911C>T (NPHP3) MANE Select	NP_694972.3:p.Ser1304Leu