Canonical Allele Identifier: CA1402637995
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700514T= , CM000665.2:g.132700514T= GRCh38
NC_000003.11:g.132419358T= , CM000665.1:g.132419358T= GRCh37
NC_000003.10:g.133902048T= NCBI36
NG_008130.1:g.26919A=
NG_008130.2:g.26919A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.1335-66A= (NPHP3) ENSP00000508078.1:n.1335-66A=
ENST00000337331.10:c.1629-66A= (NPHP3) MANE Select ENSP00000338766.5:n.1629-66A=
ENST00000337331.9:c.1629-66A= (NPHP3) ENSP00000338766.5:n.1629-66A=
ENST00000465756.5:c.1335-66A= (NPHP3) ENSP00000419907.1:n.1335-66A=
ENST00000469232.5:c.1444-66A= (NPHP3) ENSP00000418664.1:n.1444-66A=
ENST00000471702.2:c.1629-66A= (NPHP3-ACAD11) ENSP00000419763.1:n.1629-66A=
ENST00000490993.5:n.1405-66A= (NPHP3)
NM_153240.4:c.1629-66A= (NPHP3) NP_694972.3:n.1629-66A=
NR_037804.1:n.1733-66A= (NPHP3-ACAD11)
NM_153240.5:c.1629-66A= (NPHP3) MANE Select NP_694972.3:n.1629-66A=