Canonical Allele Identifier: CA9971958

Gene: PRPF6 ZNF512B

Linked Data

• ClinVar Variation Id: 339467
• ClinVar RCV Id: RCV000291159 ; RCV002057752
• dbSNP Id: rs368728762
• ExAC: 20:62626673 C / T
• gnomAD v2: 20-62626673-C-T
• gnomAD v3: 20-63995320-C-T
• gnomAD v4: 20-63995320-C-T
• MyVariant Identifiers: chr20:g.62626673C>T (hg19) ; chr20:g.63995320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63995320C>T , CM000682.2:g.63995320C>T	GRCh38
NC_000020.10:g.62626673C>T , CM000682.1:g.62626673C>T	GRCh37
NC_000020.9:g.62097117C>T	NCBI36
NG_029719.1:g.19243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266079.5:c.616-7C>T (PRPF6) MANE Select	ENSP00000266079.4:n.616-7C>T
ENST00000217130.4:c.-6-27364G>A (ZNF512B)	ENSP00000217130.3:n.-6-27364G>A
ENST00000266079.4:c.616-7C>T (PRPF6)	ENSP00000266079.4:n.616-7C>T
ENST00000450537.5:c.-5-27365G>A (ZNF512B)	ENSP00000393795.1:n.-5-27365G>A
NM_012469.3:c.616-7C>T (PRPF6)	NP_036601.2:n.616-7C>T
XM_006723769.2:c.616-7C>T (PRPF6)	XP_006723832.1:n.616-7C>T
XM_006723769.3:c.616-7C>T (PRPF6)	XP_006723832.1:n.616-7C>T
NM_012469.4:c.616-7C>T (PRPF6) MANE Select	NP_036601.2:n.616-7C>T