Canonical Allele Identifier: CA8787804

Linked Data

ClinVar Variation Id: 325472
dbSNP Id: rs375181336

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76540190C>T , CM000679.2:g.76540190C>T GRCh38
NC_000017.10:g.74536272C>T , CM000679.1:g.74536272C>T GRCh37
NC_000017.9:g.72047867C>T NCBI36
NG_016702.1:g.17605C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592014.6:c.49C>T (PRCD) MANE Select ENSP00000467661.1:p.Arg17Cys
ENST00000397633.7:n.46-315C>T (PRCD)
ENST00000465808.7:n.93-315C>T (PRCD)
ENST00000586148.1:c.49C>T (PRCD) ENSP00000465932.1:p.Arg17Cys
ENST00000589145.1:c.-52-8499G>A (CYGB) ENSP00000468559.1:n.-52-8499G>A
ENST00000590555.5:n.445-315C>T (PRCD)
ENST00000592014.5:c.49C>T (PRCD) ENSP00000467661.1:p.Arg17Cys
ENST00000592432.5:n.249-315C>T (PRCD)
NM_001077620.2:c.49C>T (PRCD) NP_001071088.1:p.Arg17Cys
NR_033357.1:n.249-315C>T (PRCD)
XM_011524272.1:c.-52-8499G>A (CYGB) XP_011522574.1:n.-52-8499G>A
XM_011525184.1:c.172C>T (PRCD) XP_011523486.1:p.Arg58Cys
XM_017024116.1:c.-52-8499G>A (CYGB) XP_016879605.1:n.-52-8499G>A
XM_017025013.1:c.49C>T (PRCD) XP_016880502.1:p.Arg17Cys
XM_017025014.1:c.49C>T (PRCD) XP_016880503.1:p.Arg17Cys
XM_017025015.1:c.49C>T (PRCD) XP_016880504.1:p.Arg17Cys
NM_001077620.3:c.49C>T (PRCD) MANE Select NP_001071088.1:p.Arg17Cys
NR_033357.2:n.249-315C>T (PRCD)