Canonical Allele Identifier: CA501890384

Gene: PRCD CYGB

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76540544C>T , CM000679.2:g.76540544C>T	GRCh38
NC_000017.10:g.74536626C>T , CM000679.1:g.74536626C>T	GRCh37
NC_000017.9:g.72048221C>T	NCBI36
NG_016702.1:g.17959C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001077620.3:c.114C>T (PRCD) MANE Select	NP_001071088.1:p.Ser38=
ENST00000592014.6:c.114C>T (PRCD) MANE Select	ENSP00000467661.1:p.Ser38=
NM_001077620.2:c.114C>T (PRCD)	NP_001071088.1:p.Ser38=
NR_033357.1:n.288C>T (PRCD)
NR_033357.2:n.288C>T (PRCD)
ENST00000397630.7:n.74C>T (PRCD)
ENST00000397633.7:n.85C>T (PRCD)
ENST00000465808.7:n.132C>T (PRCD)
ENST00000586148.1:c.114C>T (PRCD)	ENSP00000465932.1:p.Ser38=
ENST00000587813.1:n.9C>T (PRCD)
ENST00000589145.1:c.-52-8853G>A (CYGB)	ENSP00000468559.1:n.-52-8853G>A
ENST00000590555.5:n.484C>T (PRCD)
ENST00000592014.5:c.114C>T (PRCD)	ENSP00000467661.1:p.Ser38=
ENST00000592432.5:n.288C>T (PRCD)
XM_011524272.1:c.-52-8853G>A (CYGB)	XP_011522574.1:n.-52-8853G>A
XM_011525184.1:c.237C>T (PRCD)	XP_011523486.1:p.Ser79=
XM_017024116.1:c.-52-8853G>A (CYGB)	XP_016879605.1:n.-52-8853G>A
XM_017025013.1:c.114C>T (PRCD)	XP_016880502.1:p.Ser38=
XM_017025014.1:c.114C>T (PRCD)	XP_016880503.1:p.Ser38=
XM_017025015.1:c.114C>T (PRCD)	XP_016880504.1:p.Ser38=