Canonical Allele Identifier: CA354580680

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132408101G>C (hg19) ; chr3:g.132689257G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689257G>C , CM000665.2:g.132689257G>C	GRCh38
NC_000003.11:g.132408101G>C , CM000665.1:g.132408101G>C	GRCh37
NC_000003.10:g.133890791G>C	NCBI36
NG_008130.1:g.38176C>G
NG_008130.2:g.38176C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*608C>G (NPHP3)	ENSP00000508078.1:n.*608C>G
ENST00000337331.10:c.2700C>G (NPHP3) MANE Select	ENSP00000338766.5:p.His900Gln
ENST00000337331.9:c.2700C>G (NPHP3)	ENSP00000338766.5:p.His900Gln
ENST00000465756.5:c.*608C>G (NPHP3)	ENSP00000419907.1:n.*608C>G
ENST00000471702.2:c.*691C>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*691C>G
ENST00000474871.5:n.434C>G (NPHP3)
ENST00000490993.5:n.3425C>G (NPHP3)
NM_153240.4:c.2700C>G (NPHP3)	NP_694972.3:p.His900Gln
NR_037804.1:n.2706C>G (NPHP3-ACAD11)
NM_153240.5:c.2700C>G (NPHP3) MANE Select	NP_694972.3:p.His900Gln