Canonical Allele Identifier: CA401180875

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76540175G>C , CM000679.2:g.76540175G>C GRCh38
NC_000017.10:g.74536257G>C , CM000679.1:g.74536257G>C GRCh37
NC_000017.9:g.72047852G>C NCBI36
NG_016702.1:g.17590G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592014.6:c.34G>C (PRCD) MANE Select ENSP00000467661.1:p.Ala12Pro
ENST00000397633.7:n.46-330G>C (PRCD)
ENST00000465808.7:n.93-330G>C (PRCD)
ENST00000586148.1:c.34G>C (PRCD) ENSP00000465932.1:p.Ala12Pro
ENST00000589145.1:c.-52-8484C>G (CYGB) ENSP00000468559.1:n.-52-8484C>G
ENST00000590555.5:n.445-330G>C (PRCD)
ENST00000592014.5:c.34G>C (PRCD) ENSP00000467661.1:p.Ala12Pro
ENST00000592432.5:n.249-330G>C (PRCD)
NM_001077620.2:c.34G>C (PRCD) NP_001071088.1:p.Ala12Pro
NR_033357.1:n.249-330G>C (PRCD)
XM_011524272.1:c.-52-8484C>G (CYGB) XP_011522574.1:n.-52-8484C>G
XM_011525184.1:c.157G>C (PRCD) XP_011523486.1:p.Ala53Pro
XM_017024116.1:c.-52-8484C>G (CYGB) XP_016879605.1:n.-52-8484C>G
XM_017025013.1:c.34G>C (PRCD) XP_016880502.1:p.Ala12Pro
XM_017025014.1:c.34G>C (PRCD) XP_016880503.1:p.Ala12Pro
XM_017025015.1:c.34G>C (PRCD) XP_016880504.1:p.Ala12Pro
NM_001077620.3:c.34G>C (PRCD) MANE Select NP_001071088.1:p.Ala12Pro
NR_033357.2:n.249-330G>C (PRCD)