Canonical Allele Identifier: CA501890147

Gene: PRCD CYGB

Linked Data

• dbSNP Id: rs1205814447
• gnomAD v2: 17-74536244-G-A
• gnomAD v4: 17-76540162-G-A
• MyVariant Identifiers: chr17:g.74536244G>A (hg19) ; chr17:g.76540162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76540162G>A , CM000679.2:g.76540162G>A	GRCh38
NC_000017.10:g.74536244G>A , CM000679.1:g.74536244G>A	GRCh37
NC_000017.9:g.72047839G>A	NCBI36
NG_016702.1:g.17577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592014.6:c.21G>A (PRCD) MANE Select	ENSP00000467661.1:p.Leu7=
ENST00000397633.7:n.46-343G>A (PRCD)
ENST00000465808.7:n.93-343G>A (PRCD)
ENST00000586148.1:c.21G>A (PRCD)	ENSP00000465932.1:p.Leu7=
ENST00000589145.1:c.-52-8471C>T (CYGB)	ENSP00000468559.1:n.-52-8471C>T
ENST00000590555.5:n.445-343G>A (PRCD)
ENST00000592014.5:c.21G>A (PRCD)	ENSP00000467661.1:p.Leu7=
ENST00000592432.5:n.249-343G>A (PRCD)
NM_001077620.2:c.21G>A (PRCD)	NP_001071088.1:p.Leu7=
NR_033357.1:n.249-343G>A (PRCD)
XM_011524272.1:c.-52-8471C>T (CYGB)	XP_011522574.1:n.-52-8471C>T
XM_011525184.1:c.144G>A (PRCD)	XP_011523486.1:p.Leu48=
XM_017024116.1:c.-52-8471C>T (CYGB)	XP_016879605.1:n.-52-8471C>T
XM_017025013.1:c.21G>A (PRCD)	XP_016880502.1:p.Leu7=
XM_017025014.1:c.21G>A (PRCD)	XP_016880503.1:p.Leu7=
XM_017025015.1:c.21G>A (PRCD)	XP_016880504.1:p.Leu7=
NM_001077620.3:c.21G>A (PRCD) MANE Select	NP_001071088.1:p.Leu7=
NR_033357.2:n.249-343G>A (PRCD)