Canonical Allele Identifier: CA2667739624
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

gnomAD v4: 3-132700500-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700500C>A , CM000665.2:g.132700500C>A GRCh38
NC_000003.11:g.132419344C>A , CM000665.1:g.132419344C>A GRCh37
NC_000003.10:g.133902034C>A NCBI36
NG_008130.1:g.26933G>T
NG_008130.2:g.26933G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.1335-52G>T (NPHP3) ENSP00000508078.1:n.1335-52G>T
ENST00000337331.10:c.1629-52G>T (NPHP3) MANE Select ENSP00000338766.5:n.1629-52G>T
ENST00000337331.9:c.1629-52G>T (NPHP3) ENSP00000338766.5:n.1629-52G>T
ENST00000465756.5:c.1335-52G>T (NPHP3) ENSP00000419907.1:n.1335-52G>T
ENST00000469232.5:c.1444-52G>T (NPHP3) ENSP00000418664.1:n.1444-52G>T
ENST00000471702.2:c.1629-52G>T (NPHP3-ACAD11) ENSP00000419763.1:n.1629-52G>T
ENST00000490993.5:n.1405-52G>T (NPHP3)
NM_153240.4:c.1629-52G>T (NPHP3) NP_694972.3:n.1629-52G>T
NR_037804.1:n.1733-52G>T (NPHP3-ACAD11)
NM_153240.5:c.1629-52G>T (NPHP3) MANE Select NP_694972.3:n.1629-52G>T
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