Canonical Allele Identifier: CA354579300

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132686280G>C , CM000665.2:g.132686280G>C	GRCh38
NC_000003.11:g.132405124G>C , CM000665.1:g.132405124G>C	GRCh37
NC_000003.10:g.133887814G>C	NCBI36
NG_008130.1:g.41153C>G
NG_008130.2:g.41153C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_153240.5:c.3309C>G (NPHP3) MANE Select	NP_694972.3:p.Tyr1103Ter
ENST00000337331.10:c.3309C>G (NPHP3) MANE Select	ENSP00000338766.5:p.Tyr1103Ter
NM_153240.4:c.3309C>G (NPHP3)	NP_694972.3:p.Tyr1103Ter
NR_037804.1:n.3315C>G (NPHP3-ACAD11)
ENST00000337331.9:c.3309C>G (NPHP3)	ENSP00000338766.5:p.Tyr1103Ter
ENST00000465756.5:c.*1217C>G (NPHP3)	ENSP00000419907.1:n.*1217C>G
ENST00000471702.2:c.*1300C>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1300C>G
ENST00000474871.5:n.1043C>G (NPHP3)
ENST00000490993.5:n.4034C>G (NPHP3)
ENST00000684294.1:c.*1217C>G (NPHP3)	ENSP00000508078.1:n.*1217C>G