Canonical Allele Identifier: CA436088447

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132407969A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689125A>G , CM000665.2:g.132689125A>G	GRCh38
NC_000003.11:g.132407969A>G , CM000665.1:g.132407969A>G	GRCh37
NC_000003.10:g.133890659A>G	NCBI36
NG_008130.1:g.38308T>C
NG_008130.2:g.38308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*740T>C (NPHP3)	ENSP00000508078.1:n.*740T>C
ENST00000337331.10:c.2832T>C (NPHP3) MANE Select	ENSP00000338766.5:p.Asp944=
ENST00000337331.9:c.2832T>C (NPHP3)	ENSP00000338766.5:p.Asp944=
ENST00000465756.5:c.*740T>C (NPHP3)	ENSP00000419907.1:n.*740T>C
ENST00000471702.2:c.*823T>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*823T>C
ENST00000474871.5:n.566T>C (NPHP3)
ENST00000490993.5:n.3557T>C (NPHP3)
NM_153240.4:c.2832T>C (NPHP3)	NP_694972.3:p.Asp944=
NR_037804.1:n.2838T>C (NPHP3-ACAD11)
NM_153240.5:c.2832T>C (NPHP3) MANE Select	NP_694972.3:p.Asp944=