Canonical Allele Identifier: CA2667739584
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

gnomAD v4: 3-132700273-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700273A>T , CM000665.2:g.132700273A>T GRCh38
NC_000003.11:g.132419117A>T , CM000665.1:g.132419117A>T GRCh37
NC_000003.10:g.133901807A>T NCBI36
NG_008130.1:g.27160T>A
NG_008130.2:g.27160T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684294.1:c.1449+61T>A (NPHP3) ENSP00000508078.1:n.1449+61T>A
ENST00000337331.10:c.1743+61T>A (NPHP3) MANE Select ENSP00000338766.5:n.1743+61T>A
ENST00000337331.9:c.1743+61T>A (NPHP3) ENSP00000338766.5:n.1743+61T>A
ENST00000465756.5:c.1449+61T>A (NPHP3) ENSP00000419907.1:n.1449+61T>A
ENST00000469232.5:c.1558+61T>A (NPHP3) ENSP00000418664.1:n.1558+61T>A
ENST00000471702.2:c.1743+61T>A (NPHP3-ACAD11) ENSP00000419763.1:n.1743+61T>A
ENST00000490993.5:n.1519+61T>A (NPHP3)
NM_153240.4:c.1743+61T>A (NPHP3) NP_694972.3:n.1743+61T>A
NR_037804.1:n.1847+61T>A (NPHP3-ACAD11)
NM_153240.5:c.1743+61T>A (NPHP3) MANE Select NP_694972.3:n.1743+61T>A
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