Canonical Allele Identifier: CA775195852

Gene: PRCD CYGB

Linked Data

• dbSNP Id: rs1428760815
• gnomAD v3: 17-76540018-T-C
• gnomAD v4: 17-76540018-T-C
• MyVariant Identifiers: chr17:g.74536100T>C (hg19) ; chr17:g.76540018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76540018T>C , CM000679.2:g.76540018T>C	GRCh38
NC_000017.10:g.74536100T>C , CM000679.1:g.74536100T>C	GRCh37
NC_000017.9:g.72047695T>C	NCBI36
NG_016702.1:g.17433T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397633.7:n.46-487T>C (PRCD)
ENST00000465808.7:n.93-487T>C (PRCD)
ENST00000589145.1:c.-52-8327A>G (CYGB)	ENSP00000468559.1:n.-52-8327A>G
ENST00000590555.5:n.445-487T>C (PRCD)
ENST00000592432.5:n.249-487T>C (PRCD)
NR_033357.1:n.249-487T>C (PRCD)
XM_011524272.1:c.-52-8327A>G (CYGB)	XP_011522574.1:n.-52-8327A>G
XM_011525184.1:c.14-14T>C (PRCD)	XP_011523486.1:n.14-14T>C
XM_017024116.1:c.-52-8327A>G (CYGB)	XP_016879605.1:n.-52-8327A>G
XM_017025013.1:c.-124T>C (PRCD)	XP_016880502.1:n.-124T>C
XM_017025014.1:c.-124T>C (PRCD)	XP_016880503.1:n.-124T>C
XM_017025015.1:c.-124T>C (PRCD)	XP_016880504.1:n.-124T>C
NR_033357.2:n.249-487T>C (PRCD)