Canonical Allele Identifier: CA1402637656
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700249T= , CM000665.2:g.132700249T= GRCh38
NC_000003.11:g.132419093T= , CM000665.1:g.132419093T= GRCh37
NC_000003.10:g.133901783T= NCBI36
NG_008130.1:g.27184A=
NG_008130.2:g.27184A=

Transcript Alleles

HGVS Amino-acid change
ENST00000684294.1:c.1449+85A= (NPHP3) ENSP00000508078.1:n.1449+85A=
ENST00000337331.10:c.1743+85A= (NPHP3) MANE Select ENSP00000338766.5:n.1743+85A=
ENST00000337331.9:c.1743+85A= (NPHP3) ENSP00000338766.5:n.1743+85A=
ENST00000465756.5:c.1449+85A= (NPHP3) ENSP00000419907.1:n.1449+85A=
ENST00000469232.5:c.1558+85A= (NPHP3) ENSP00000418664.1:n.1558+85A=
ENST00000471702.2:c.1743+85A= (NPHP3-ACAD11) ENSP00000419763.1:n.1743+85A=
ENST00000490993.5:n.1519+85A= (NPHP3)
NM_153240.4:c.1743+85A= (NPHP3) NP_694972.3:n.1743+85A=
NR_037804.1:n.1847+85A= (NPHP3-ACAD11)
NM_153240.5:c.1743+85A= (NPHP3) MANE Select NP_694972.3:n.1743+85A=