Canonical Allele Identifier: CA435780777

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132400826T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681982T>G , CM000665.2:g.132681982T>G	GRCh38
NC_000003.11:g.132400826T>G , CM000665.1:g.132400826T>G	GRCh37
NC_000003.10:g.133883516T>G	NCBI36
NG_008130.1:g.45451A>C
NG_008130.2:g.45451A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1849A>C (NPHP3)	ENSP00000508078.1:n.*1849A>C
ENST00000337331.10:c.3921A>C (NPHP3) MANE Select	ENSP00000338766.5:p.Ser1307=
ENST00000337331.9:c.3921A>C (NPHP3)	ENSP00000338766.5:p.Ser1307=
ENST00000465756.5:c.*1829A>C (NPHP3)	ENSP00000419907.1:n.*1829A>C
ENST00000471702.2:c.*1912A>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1912A>C
ENST00000474871.5:n.3120A>C (NPHP3)
ENST00000490993.5:n.4646A>C (NPHP3)
ENST00000493732.5:n.1233A>C (NPHP3)
ENST00000512094.5:c.367A>C (NPHP3)	ENSP00000427666.1:n.367A>C
ENST00000632629.1:c.568A>C (NPHP3-ACAD11)
NM_153240.4:c.3921A>C (NPHP3)	NP_694972.3:p.Ser1307=
NR_037804.1:n.3927A>C (NPHP3-ACAD11)
NM_153240.5:c.3921A>C (NPHP3) MANE Select	NP_694972.3:p.Ser1307=