Canonical Allele Identifier: CA354580478

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• gnomAD v4: 3-132689171-T-C
• MyVariant Identifiers: chr3:g.132408015T>C (hg19) ; chr3:g.132689171T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689171T>C , CM000665.2:g.132689171T>C	GRCh38
NC_000003.11:g.132408015T>C , CM000665.1:g.132408015T>C	GRCh37
NC_000003.10:g.133890705T>C	NCBI36
NG_008130.1:g.38262A>G
NG_008130.2:g.38262A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*694A>G (NPHP3)	ENSP00000508078.1:n.*694A>G
ENST00000337331.10:c.2786A>G (NPHP3) MANE Select	ENSP00000338766.5:p.Tyr929Cys
ENST00000337331.9:c.2786A>G (NPHP3)	ENSP00000338766.5:p.Tyr929Cys
ENST00000465756.5:c.*694A>G (NPHP3)	ENSP00000419907.1:n.*694A>G
ENST00000471702.2:c.*777A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*777A>G
ENST00000474871.5:n.520A>G (NPHP3)
ENST00000490993.5:n.3511A>G (NPHP3)
NM_153240.4:c.2786A>G (NPHP3)	NP_694972.3:p.Tyr929Cys
NR_037804.1:n.2792A>G (NPHP3-ACAD11)
NM_153240.5:c.2786A>G (NPHP3) MANE Select	NP_694972.3:p.Tyr929Cys