Canonical Allele Identifier: CA354580351

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132407962C>T (hg19) ; chr3:g.132689118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689118C>T , CM000665.2:g.132689118C>T	GRCh38
NC_000003.11:g.132407962C>T , CM000665.1:g.132407962C>T	GRCh37
NC_000003.10:g.133890652C>T	NCBI36
NG_008130.1:g.38315G>A
NG_008130.2:g.38315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*747G>A (NPHP3)	ENSP00000508078.1:n.*747G>A
ENST00000337331.10:c.2839G>A (NPHP3) MANE Select	ENSP00000338766.5:p.Glu947Lys
ENST00000337331.9:c.2839G>A (NPHP3)	ENSP00000338766.5:p.Glu947Lys
ENST00000465756.5:c.*747G>A (NPHP3)	ENSP00000419907.1:n.*747G>A
ENST00000471702.2:c.*830G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*830G>A
ENST00000474871.5:n.573G>A (NPHP3)
ENST00000490993.5:n.3564G>A (NPHP3)
NM_153240.4:c.2839G>A (NPHP3)	NP_694972.3:p.Glu947Lys
NR_037804.1:n.2845G>A (NPHP3-ACAD11)
NM_153240.5:c.2839G>A (NPHP3) MANE Select	NP_694972.3:p.Glu947Lys