Canonical Allele Identifier: CA354578984

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132403519T>C (hg19) ; chr3:g.132684675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684675T>C , CM000665.2:g.132684675T>C	GRCh38
NC_000003.11:g.132403519T>C , CM000665.1:g.132403519T>C	GRCh37
NC_000003.10:g.133886209T>C	NCBI36
NG_008130.1:g.42758A>G
NG_008130.2:g.42758A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1357A>G (NPHP3)	ENSP00000508078.1:n.*1357A>G
ENST00000337331.10:c.3449A>G (NPHP3) MANE Select	ENSP00000338766.5:p.Gln1150Arg
ENST00000337331.9:c.3449A>G (NPHP3)	ENSP00000338766.5:p.Gln1150Arg
ENST00000465756.5:c.*1357A>G (NPHP3)	ENSP00000419907.1:n.*1357A>G
ENST00000471702.2:c.*1440A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1440A>G
ENST00000474871.5:n.2648A>G (NPHP3)
ENST00000490993.5:n.4174A>G (NPHP3)
ENST00000493732.5:n.149A>G (NPHP3)
ENST00000512094.5:c.11A>G (NPHP3)	ENSP00000427666.1:p.Gln4Arg
ENST00000632629.1:c.96A>G (NPHP3-ACAD11)
NM_153240.4:c.3449A>G (NPHP3)	NP_694972.3:p.Gln1150Arg
NR_037804.1:n.3455A>G (NPHP3-ACAD11)
NM_153240.5:c.3449A>G (NPHP3) MANE Select	NP_694972.3:p.Gln1150Arg