Canonical Allele Identifier: CA409748331

Gene: PRPF6 ZNF512B

Linked Data

• MyVariant Identifiers: chr20:g.62664299G>C (hg19) ; chr20:g.64032946G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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