Canonical Allele Identifier: CA401182183

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76540509C>A , CM000679.2:g.76540509C>A GRCh38
NC_000017.10:g.74536591C>A , CM000679.1:g.74536591C>A GRCh37
NC_000017.9:g.72048186C>A NCBI36
NG_016702.1:g.17924C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592014.6:c.79C>A (PRCD) MANE Select ENSP00000467661.1:p.Pro27Thr
ENST00000397630.7:n.39C>A (PRCD)
ENST00000397633.7:n.50C>A (PRCD)
ENST00000465808.7:n.97C>A (PRCD)
ENST00000586148.1:c.79C>A (PRCD) ENSP00000465932.1:p.Pro27Thr
ENST00000589145.1:c.-52-8818G>T (CYGB) ENSP00000468559.1:n.-52-8818G>T
ENST00000590555.5:n.449C>A (PRCD)
ENST00000592014.5:c.79C>A (PRCD) ENSP00000467661.1:p.Pro27Thr
ENST00000592432.5:n.253C>A (PRCD)
NM_001077620.2:c.79C>A (PRCD) NP_001071088.1:p.Pro27Thr
NR_033357.1:n.253C>A (PRCD)
XM_011524272.1:c.-52-8818G>T (CYGB) XP_011522574.1:n.-52-8818G>T
XM_011525184.1:c.202C>A (PRCD) XP_011523486.1:p.Pro68Thr
XM_017024116.1:c.-52-8818G>T (CYGB) XP_016879605.1:n.-52-8818G>T
XM_017025013.1:c.79C>A (PRCD) XP_016880502.1:p.Pro27Thr
XM_017025014.1:c.79C>A (PRCD) XP_016880503.1:p.Pro27Thr
XM_017025015.1:c.79C>A (PRCD) XP_016880504.1:p.Pro27Thr
NM_001077620.3:c.79C>A (PRCD) MANE Select NP_001071088.1:p.Pro27Thr
NR_033357.2:n.253C>A (PRCD)