Canonical Allele Identifier: CA9972600

Gene: PRPF6 ZNF512B

Linked Data

• ClinVar Variation Id: 339490
• ClinVar RCV Id: RCV000300514 ; RCV001517956
• dbSNP Id: rs145731410
• ExAC: 20:62664299 G / A
• gnomAD v2: 20-62664299-G-A
• gnomAD v3: 20-64032946-G-A
• gnomAD v4: 20-64032946-G-A
• MyVariant Identifiers: chr20:g.62664299G>A (hg19) ; chr20:g.64032946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.64032946G>A , CM000682.2:g.64032946G>A	GRCh38
NC_000020.10:g.62664299G>A , CM000682.1:g.62664299G>A	GRCh37
NC_000020.9:g.62134743G>A	NCBI36
NG_029719.1:g.56869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266079.5:c.2779G>A (PRPF6) MANE Select	ENSP00000266079.4:p.Gly927Arg
ENST00000217130.4:c.-7+5593C>T (ZNF512B)	ENSP00000217130.3:n.-7+5593C>T
ENST00000266079.4:c.2779G>A (PRPF6)	ENSP00000266079.4:p.Gly927Arg
ENST00000450537.5:c.-6+15759C>T (ZNF512B)	ENSP00000393795.1:n.-6+15759C>T
NM_012469.3:c.2779G>A (PRPF6)	NP_036601.2:p.Gly927Arg
XM_006723769.2:c.2560G>A (PRPF6)	XP_006723832.1:p.Gly854Arg
XM_006723769.3:c.2560G>A (PRPF6)	XP_006723832.1:p.Gly854Arg
NM_012469.4:c.2779G>A (PRPF6) MANE Select	NP_036601.2:p.Gly927Arg