Canonical Allele Identifier: CA83579335

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs937595372
• MyVariant Identifiers: chr3:g.132399579A>C (hg19) ; chr3:g.132680735A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132680735A>C , CM000665.2:g.132680735A>C	GRCh38
NC_000003.11:g.132399579A>C , CM000665.1:g.132399579A>C	GRCh37
NC_000003.10:g.133882269A>C	NCBI36
NG_008130.1:g.46698T>G
NG_008130.2:g.46698T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337331.10:c.*1175T>G (NPHP3) MANE Select	ENSP00000338766.5:n.*1175T>G
ENST00000471702.2:c.*1980+1179T>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+1179T>G
ENST00000474871.5:n.4367T>G (NPHP3)
ENST00000632629.1:c.636+1179T>G (NPHP3-ACAD11)
NM_153240.4:c.*1175T>G (NPHP3)	NP_694972.3:n.*1175T>G
NR_037804.1:n.3995+1179T>G (NPHP3-ACAD11)
NM_153240.5:c.*1175T>G (NPHP3) MANE Select	NP_694972.3:n.*1175T>G