Canonical Allele Identifier: CA2577904933

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684798T>C , CM000665.2:g.132684798T>C	GRCh38
NC_000003.11:g.132403642T>C , CM000665.1:g.132403642T>C	GRCh37
NC_000003.10:g.133886332T>C	NCBI36
NG_008130.1:g.42635A>G
NG_008130.2:g.42635A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1238-4A>G (NPHP3)	ENSP00000508078.1:n.*1238-4A>G
ENST00000337331.10:c.3330-4A>G (NPHP3) MANE Select	ENSP00000338766.5:n.3330-4A>G
ENST00000337331.9:c.3330-4A>G (NPHP3)	ENSP00000338766.5:n.3330-4A>G
ENST00000465756.5:c.*1238-4A>G (NPHP3)	ENSP00000419907.1:n.*1238-4A>G
ENST00000471702.2:c.*1321-4A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1321-4A>G
ENST00000474871.5:n.2525A>G (NPHP3)
ENST00000490993.5:n.4055-4A>G (NPHP3)
ENST00000493732.5:n.26A>G (NPHP3)
NM_153240.4:c.3330-4A>G (NPHP3)	NP_694972.3:n.3330-4A>G
NR_037804.1:n.3336-4A>G (NPHP3-ACAD11)
NM_153240.5:c.3330-4A>G (NPHP3) MANE Select	NP_694972.3:n.3330-4A>G