Canonical Allele Identifier: CA354580461

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• MyVariant Identifiers: chr3:g.132408009T>A (hg19) ; chr3:g.132689165T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689165T>A , CM000665.2:g.132689165T>A	GRCh38
NC_000003.11:g.132408009T>A , CM000665.1:g.132408009T>A	GRCh37
NC_000003.10:g.133890699T>A	NCBI36
NG_008130.1:g.38268A>T
NG_008130.2:g.38268A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*700A>T (NPHP3)	ENSP00000508078.1:n.*700A>T
ENST00000337331.10:c.2792A>T (NPHP3) MANE Select	ENSP00000338766.5:p.Lys931Ile
ENST00000337331.9:c.2792A>T (NPHP3)	ENSP00000338766.5:p.Lys931Ile
ENST00000465756.5:c.*700A>T (NPHP3)	ENSP00000419907.1:n.*700A>T
ENST00000471702.2:c.*783A>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*783A>T
ENST00000474871.5:n.526A>T (NPHP3)
ENST00000490993.5:n.3517A>T (NPHP3)
NM_153240.4:c.2792A>T (NPHP3)	NP_694972.3:p.Lys931Ile
NR_037804.1:n.2798A>T (NPHP3-ACAD11)
NM_153240.5:c.2792A>T (NPHP3) MANE Select	NP_694972.3:p.Lys931Ile