Canonical Allele Identifier: CA354579706

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132687223A>T , CM000665.2:g.132687223A>T	GRCh38
NC_000003.11:g.132406067A>T , CM000665.1:g.132406067A>T	GRCh37
NC_000003.10:g.133888757A>T	NCBI36
NG_008130.1:g.40210T>A
NG_008130.2:g.40210T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153240.5:c.3129T>A (NPHP3) MANE Select	NP_694972.3:p.Tyr1043Ter
ENST00000337331.10:c.3129T>A (NPHP3) MANE Select	ENSP00000338766.5:p.Tyr1043Ter
NM_153240.4:c.3129T>A (NPHP3)	NP_694972.3:p.Tyr1043Ter
NR_037804.1:n.3135T>A (NPHP3-ACAD11)
ENST00000337331.9:c.3129T>A (NPHP3)	ENSP00000338766.5:p.Tyr1043Ter
ENST00000465756.5:c.*1037T>A (NPHP3)	ENSP00000419907.1:n.*1037T>A
ENST00000471702.2:c.*1120T>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1120T>A
ENST00000474871.5:n.863T>A (NPHP3)
ENST00000490993.5:n.3854T>A (NPHP3)
ENST00000684294.1:c.*1037T>A (NPHP3)	ENSP00000508078.1:n.*1037T>A