Canonical Allele Identifier: CA354582996
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.132419221G>A (hg19) chr3:g.132700377G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700377G>A , CM000665.2:g.132700377G>A GRCh38
NC_000003.11:g.132419221G>A , CM000665.1:g.132419221G>A GRCh37
NC_000003.10:g.133901911G>A NCBI36
NG_008130.1:g.27056C>T
NG_008130.2:g.27056C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.1406C>T (NPHP3) ENSP00000508078.1:p.Thr469Ile
ENST00000337331.10:c.1700C>T (NPHP3) MANE Select ENSP00000338766.5:p.Thr567Ile
ENST00000337331.9:c.1700C>T (NPHP3) ENSP00000338766.5:p.Thr567Ile
ENST00000465756.5:c.1406C>T (NPHP3) ENSP00000419907.1:p.Thr469Ile
ENST00000469232.5:c.1515C>T (NPHP3) ENSP00000418664.1:n.1515C>T
ENST00000471702.2:c.1700C>T (NPHP3-ACAD11) ENSP00000419763.1:p.Thr567Ile
ENST00000490993.5:n.1476C>T (NPHP3)
NM_153240.4:c.1700C>T (NPHP3) NP_694972.3:p.Thr567Ile
NR_037804.1:n.1804C>T (NPHP3-ACAD11)
NM_153240.5:c.1700C>T (NPHP3) MANE Select NP_694972.3:p.Thr567Ile
Search 100 bp 5'
Search 100 bp 3'