Canonical Allele Identifier: CA294200366

Gene: PRCD CYGB

Linked Data

• dbSNP Id: rs900212175
• gnomAD v3: 17-76540092-C-T
• gnomAD v4: 17-76540092-C-T
• MyVariant Identifiers: chr17:g.74536174C>T (hg19) ; chr17:g.76540092C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76540092C>T , CM000679.2:g.76540092C>T	GRCh38
NC_000017.10:g.74536174C>T , CM000679.1:g.74536174C>T	GRCh37
NC_000017.9:g.72047769C>T	NCBI36
NG_016702.1:g.17507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592014.6:c.-50C>T (PRCD) MANE Select	ENSP00000467661.1:n.-50C>T
ENST00000397633.7:n.46-413C>T (PRCD)
ENST00000465808.7:n.93-413C>T (PRCD)
ENST00000586148.1:c.-50C>T (PRCD)	ENSP00000465932.1:n.-50C>T
ENST00000589145.1:c.-52-8401G>A (CYGB)	ENSP00000468559.1:n.-52-8401G>A
ENST00000590555.5:n.445-413C>T (PRCD)
ENST00000592014.5:c.-50C>T (PRCD)	ENSP00000467661.1:n.-50C>T
ENST00000592432.5:n.249-413C>T (PRCD)
NM_001077620.2:c.-50C>T (PRCD)	NP_001071088.1:n.-50C>T
NR_033357.1:n.249-413C>T (PRCD)
XM_011524272.1:c.-52-8401G>A (CYGB)	XP_011522574.1:n.-52-8401G>A
XM_011525184.1:c.74C>T (PRCD)	XP_011523486.1:p.Ala25Val
XM_017024116.1:c.-52-8401G>A (CYGB)	XP_016879605.1:n.-52-8401G>A
XM_017025013.1:c.-50C>T (PRCD)	XP_016880502.1:n.-50C>T
XM_017025014.1:c.-50C>T (PRCD)	XP_016880503.1:n.-50C>T
XM_017025015.1:c.-50C>T (PRCD)	XP_016880504.1:n.-50C>T
NM_001077620.3:c.-50C>T (PRCD) MANE Select	NP_001071088.1:n.-50C>T
NR_033357.2:n.249-413C>T (PRCD)