Canonical Allele Identifier: CA1402644420

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1939005885

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132680837A>C , CM000665.2:g.132680837A>C	GRCh38
NC_000003.11:g.132399681A>C , CM000665.1:g.132399681A>C	GRCh37
NC_000003.10:g.133882371A>C	NCBI36
NG_008130.1:g.46596T>G
NG_008130.2:g.46596T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337331.10:c.*1073T>G (NPHP3) MANE Select	ENSP00000338766.5:n.*1073T>G
ENST00000471702.2:c.*1980+1077T>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+1077T>G
ENST00000474871.5:n.4265T>G (NPHP3)
ENST00000632629.1:c.636+1077T>G (NPHP3-ACAD11)
NM_153240.4:c.*1073T>G (NPHP3)	NP_694972.3:n.*1073T>G
NR_037804.1:n.3995+1077T>G (NPHP3-ACAD11)
NM_153240.5:c.*1073T>G (NPHP3) MANE Select	NP_694972.3:n.*1073T>G