Canonical Allele Identifier: CA83593531

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132701527G>A , CM000665.2:g.132701527G>A	GRCh38
NC_000003.11:g.132420371G>A , CM000665.1:g.132420371G>A	GRCh37
NC_000003.10:g.133903061G>A	NCBI36
NG_008130.1:g.25906C>T
NG_008130.2:g.25906C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153240.5:c.1531C>T (NPHP3) MANE Select	NP_694972.3:p.Gln511Ter
ENST00000337331.10:c.1531C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Gln511Ter
NM_153240.4:c.1531C>T (NPHP3)	NP_694972.3:p.Gln511Ter
NR_037804.1:n.1635C>T (NPHP3-ACAD11)
ENST00000337331.9:c.1531C>T (NPHP3)	ENSP00000338766.5:p.Gln511Ter
ENST00000465756.5:c.1237C>T (NPHP3)	ENSP00000419907.1:p.Gln413Ter
ENST00000469232.5:c.1346C>T (NPHP3)	ENSP00000418664.1:n.1346C>T
ENST00000471702.2:c.1531C>T (NPHP3-ACAD11)	ENSP00000419763.1:p.Gln511Ter
ENST00000490993.5:n.1307C>T (NPHP3)
ENST00000684294.1:c.1237C>T (NPHP3)	ENSP00000508078.1:p.Gln413Ter