Canonical Allele Identifier: CA1402637869

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700430C= , CM000665.2:g.132700430C=	GRCh38
NC_000003.11:g.132419274C= , CM000665.1:g.132419274C=	GRCh37
NC_000003.10:g.133901964C=	NCBI36
NG_008130.1:g.27003G=
NG_008130.2:g.27003G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1353G= (NPHP3)	ENSP00000508078.1:p.Lys451=
ENST00000337331.10:c.1647G= (NPHP3) MANE Select	ENSP00000338766.5:p.Lys549=
ENST00000337331.9:c.1647G= (NPHP3)	ENSP00000338766.5:p.Lys549=
ENST00000465756.5:c.1353G= (NPHP3)	ENSP00000419907.1:p.Lys451=
ENST00000469232.5:c.1462G= (NPHP3)	ENSP00000418664.1:n.1462G=
ENST00000471702.2:c.1647G= (NPHP3-ACAD11)	ENSP00000419763.1:p.Lys549=
ENST00000490993.5:n.1423G= (NPHP3)
NM_153240.4:c.1647G= (NPHP3)	NP_694972.3:p.Lys549=
NR_037804.1:n.1751G= (NPHP3-ACAD11)
NM_153240.5:c.1647G= (NPHP3) MANE Select	NP_694972.3:p.Lys549=