Canonical Allele Identifier: CA354578846

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132403457G>T (hg19) ; chr3:g.132684613G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684613G>T , CM000665.2:g.132684613G>T	GRCh38
NC_000003.11:g.132403457G>T , CM000665.1:g.132403457G>T	GRCh37
NC_000003.10:g.133886147G>T	NCBI36
NG_008130.1:g.42820C>A
NG_008130.2:g.42820C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1419C>A (NPHP3)	ENSP00000508078.1:n.*1419C>A
ENST00000337331.10:c.3511C>A (NPHP3) MANE Select	ENSP00000338766.5:p.Pro1171Thr
ENST00000337331.9:c.3511C>A (NPHP3)	ENSP00000338766.5:p.Pro1171Thr
ENST00000465756.5:c.*1419C>A (NPHP3)	ENSP00000419907.1:n.*1419C>A
ENST00000471702.2:c.*1502C>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1502C>A
ENST00000474871.5:n.2710C>A (NPHP3)
ENST00000490993.5:n.4236C>A (NPHP3)
ENST00000493732.5:n.211C>A (NPHP3)
ENST00000512094.5:c.73C>A (NPHP3)	ENSP00000427666.1:p.Pro25Thr
ENST00000632629.1:c.158C>A (NPHP3-ACAD11)
NM_153240.4:c.3511C>A (NPHP3)	NP_694972.3:p.Pro1171Thr
NR_037804.1:n.3517C>A (NPHP3-ACAD11)
NM_153240.5:c.3511C>A (NPHP3) MANE Select	NP_694972.3:p.Pro1171Thr