Canonical Allele Identifier: CA354577949

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132400837A>C (hg19) ; chr3:g.132681993A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681993A>C , CM000665.2:g.132681993A>C	GRCh38
NC_000003.11:g.132400837A>C , CM000665.1:g.132400837A>C	GRCh37
NC_000003.10:g.133883527A>C	NCBI36
NG_008130.1:g.45440T>G
NG_008130.2:g.45440T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1838T>G (NPHP3)	ENSP00000508078.1:n.*1838T>G
ENST00000337331.10:c.3910T>G (NPHP3) MANE Select	ENSP00000338766.5:p.Ser1304Ala
ENST00000337331.9:c.3910T>G (NPHP3)	ENSP00000338766.5:p.Ser1304Ala
ENST00000465756.5:c.*1818T>G (NPHP3)	ENSP00000419907.1:n.*1818T>G
ENST00000471702.2:c.*1901T>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1901T>G
ENST00000474871.5:n.3109T>G (NPHP3)
ENST00000490993.5:n.4635T>G (NPHP3)
ENST00000493732.5:n.1222T>G (NPHP3)
ENST00000512094.5:c.356T>G (NPHP3)	ENSP00000427666.1:n.356T>G
ENST00000632629.1:c.557T>G (NPHP3-ACAD11)
NM_153240.4:c.3910T>G (NPHP3)	NP_694972.3:p.Ser1304Ala
NR_037804.1:n.3916T>G (NPHP3-ACAD11)
NM_153240.5:c.3910T>G (NPHP3) MANE Select	NP_694972.3:p.Ser1304Ala