Canonical Allele Identifier: CA2509516221

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689329T>G , CM000665.2:g.132689329T>G	GRCh38
NC_000003.11:g.132408173T>G , CM000665.1:g.132408173T>G	GRCh37
NC_000003.10:g.133890863T>G	NCBI36
NG_008130.1:g.38104A>C
NG_008130.2:g.38104A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*602-66A>C (NPHP3)	ENSP00000508078.1:n.*602-66A>C
ENST00000337331.10:c.2694-66A>C (NPHP3) MANE Select	ENSP00000338766.5:n.2694-66A>C
ENST00000337331.9:c.2694-66A>C (NPHP3)	ENSP00000338766.5:n.2694-66A>C
ENST00000465756.5:c.*602-66A>C (NPHP3)	ENSP00000419907.1:n.*602-66A>C
ENST00000471702.2:c.*685-66A>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*685-66A>C
ENST00000474871.5:n.428-66A>C (NPHP3)
ENST00000490993.5:n.3419-66A>C (NPHP3)
NM_153240.4:c.2694-66A>C (NPHP3)	NP_694972.3:n.2694-66A>C
NR_037804.1:n.2700-66A>C (NPHP3-ACAD11)
NM_153240.5:c.2694-66A>C (NPHP3) MANE Select	NP_694972.3:n.2694-66A>C