Canonical Allele Identifier: CA2276048059

Gene: PRCD CYGB

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76542541T>C , CM000679.2:g.76542541T>C	GRCh38
NC_000017.10:g.74538623T>C , CM000679.1:g.74538623T>C	GRCh37
NC_000017.9:g.72050218T>C	NCBI36
NG_016702.1:g.19956T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592014.6:c.144-12T>C (PRCD) MANE Select	ENSP00000467661.1:n.144-12T>C
ENST00000397630.7:n.104-12T>C (PRCD)
ENST00000397633.7:n.115-12T>C (PRCD)
ENST00000465808.7:n.162-488T>C (PRCD)
ENST00000586148.1:c.144-12T>C (PRCD)	ENSP00000465932.1:n.144-12T>C
ENST00000587289.5:n.26-12T>C (PRCD)
ENST00000587813.1:n.38+1968T>C (PRCD)
ENST00000589145.1:c.-53+8321A>G (CYGB)	ENSP00000468559.1:n.-53+8321A>G
ENST00000590555.5:n.514-12T>C (PRCD)
ENST00000592014.5:c.144-12T>C (PRCD)	ENSP00000467661.1:n.144-12T>C
ENST00000592340.5:n.26-12T>C (PRCD)
ENST00000592432.5:n.318-12T>C (PRCD)
NM_001077620.2:c.144-12T>C (PRCD)	NP_001071088.1:n.144-12T>C
NR_033357.1:n.318-12T>C (PRCD)
XM_011524272.1:c.-53+8321A>G (CYGB)	XP_011522574.1:n.-53+8321A>G
XM_011525184.1:c.267-12T>C (PRCD)	XP_011523486.1:n.267-12T>C
XM_017024116.1:c.-53+8321A>G (CYGB)	XP_016879605.1:n.-53+8321A>G
XM_017025013.1:c.144-12T>C (PRCD)	XP_016880502.1:n.144-12T>C
XM_017025014.1:c.144-12T>C (PRCD)	XP_016880503.1:n.144-12T>C
XM_017025015.1:c.144-12T>C (PRCD)	XP_016880504.1:n.144-12T>C
NM_001077620.3:c.144-12T>C (PRCD) MANE Select	NP_001071088.1:n.144-12T>C
NR_033357.2:n.318-12T>C (PRCD)