Canonical Allele Identifier: CA354579012

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132403530A>C (hg19) ; chr3:g.132684686A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684686A>C , CM000665.2:g.132684686A>C	GRCh38
NC_000003.11:g.132403530A>C , CM000665.1:g.132403530A>C	GRCh37
NC_000003.10:g.133886220A>C	NCBI36
NG_008130.1:g.42747T>G
NG_008130.2:g.42747T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1346T>G (NPHP3)	ENSP00000508078.1:n.*1346T>G
ENST00000337331.10:c.3438T>G (NPHP3) MANE Select	ENSP00000338766.5:p.Asn1146Lys
ENST00000337331.9:c.3438T>G (NPHP3)	ENSP00000338766.5:p.Asn1146Lys
ENST00000465756.5:c.*1346T>G (NPHP3)	ENSP00000419907.1:n.*1346T>G
ENST00000471702.2:c.*1429T>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1429T>G
ENST00000474871.5:n.2637T>G (NPHP3)
ENST00000490993.5:n.4163T>G (NPHP3)
ENST00000493732.5:n.138T>G (NPHP3)
ENST00000632629.1:c.85T>G (NPHP3-ACAD11)
NM_153240.4:c.3438T>G (NPHP3)	NP_694972.3:p.Asn1146Lys
NR_037804.1:n.3444T>G (NPHP3-ACAD11)
NM_153240.5:c.3438T>G (NPHP3) MANE Select	NP_694972.3:p.Asn1146Lys