Canonical Allele Identifier: CA8787908

Gene: PRCD CYGB

Linked Data

• dbSNP Id: rs759376499
• ExAC: 17:74536599 C / G
• gnomAD v2: 17-74536599-C-G
• gnomAD v4: 17-76540517-C-G
• MyVariant Identifiers: chr17:g.74536599C>G (hg19) ; chr17:g.76540517C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76540517C>G , CM000679.2:g.76540517C>G	GRCh38
NC_000017.10:g.74536599C>G , CM000679.1:g.74536599C>G	GRCh37
NC_000017.9:g.72048194C>G	NCBI36
NG_016702.1:g.17932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592014.6:c.87C>G (PRCD) MANE Select	ENSP00000467661.1:p.Asp29Glu
ENST00000397630.7:n.47C>G (PRCD)
ENST00000397633.7:n.58C>G (PRCD)
ENST00000465808.7:n.105C>G (PRCD)
ENST00000586148.1:c.87C>G (PRCD)	ENSP00000465932.1:p.Asp29Glu
ENST00000589145.1:c.-52-8826G>C (CYGB)	ENSP00000468559.1:n.-52-8826G>C
ENST00000590555.5:n.457C>G (PRCD)
ENST00000592014.5:c.87C>G (PRCD)	ENSP00000467661.1:p.Asp29Glu
ENST00000592432.5:n.261C>G (PRCD)
NM_001077620.2:c.87C>G (PRCD)	NP_001071088.1:p.Asp29Glu
NR_033357.1:n.261C>G (PRCD)
XM_011524272.1:c.-52-8826G>C (CYGB)	XP_011522574.1:n.-52-8826G>C
XM_011525184.1:c.210C>G (PRCD)	XP_011523486.1:p.Asp70Glu
XM_017024116.1:c.-52-8826G>C (CYGB)	XP_016879605.1:n.-52-8826G>C
XM_017025013.1:c.87C>G (PRCD)	XP_016880502.1:p.Asp29Glu
XM_017025014.1:c.87C>G (PRCD)	XP_016880503.1:p.Asp29Glu
XM_017025015.1:c.87C>G (PRCD)	XP_016880504.1:p.Asp29Glu
NM_001077620.3:c.87C>G (PRCD) MANE Select	NP_001071088.1:p.Asp29Glu
NR_033357.2:n.261C>G (PRCD)