Canonical Allele Identifier: CA10602883

Gene: NPHP3 NPHP3-ACAD11 NPHP3-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132722354A>G , CM000665.2:g.132722354A>G	GRCh38
NC_000003.11:g.132441198A>G , CM000665.1:g.132441198A>G	GRCh37
NC_000003.10:g.133923888A>G	NCBI36
NG_008130.1:g.5079T>C
NG_008130.2:g.5079T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153240.5:c.2T>C (NPHP3) MANE Select	NP_694972.3:p.Met1Thr
ENST00000337331.10:c.2T>C (NPHP3) MANE Select	ENSP00000338766.5:p.Met1Thr
NM_153240.4:c.2T>C (NPHP3)	NP_694972.3:p.Met1Thr
NR_002811.1:n.13A>G (NPHP3-AS1)
NR_002811.2:n.605A>G (NPHP3-AS1)
NR_037804.1:n.106T>C (NPHP3-ACAD11)
NR_152743.1:n.605A>G (NPHP3-AS1)
ENST00000337331.9:c.2T>C (NPHP3)	ENSP00000338766.5:p.Met1Thr
ENST00000383282.3:c.2T>C (NPHP3-ACAD11)	ENSP00000372769.2:p.Met1Thr
ENST00000465756.5:c.2T>C (NPHP3)	ENSP00000419907.1:p.Met1Thr
ENST00000471702.2:c.2T>C (NPHP3-ACAD11)	ENSP00000419763.1:p.Met1Thr
ENST00000683570.1:c.2T>C (NPHP3)	ENSP00000508409.1:p.Met1Thr
ENST00000684294.1:c.2T>C (NPHP3)	ENSP00000508078.1:p.Met1Thr