Canonical Allele Identifier: CA9971957

Gene: PRPF6 ZNF512B

Linked Data

• ClinVar Variation Id: 339466
• ClinVar RCV Id: RCV000383164 ; RCV002057751
• dbSNP Id: rs376559986
• ExAC: 20:62626670 T / G
• gnomAD v2: 20-62626670-T-G
• gnomAD v3: 20-63995317-T-G
• gnomAD v4: 20-63995317-T-G
• MyVariant Identifiers: chr20:g.62626670T>G (hg19) ; chr20:g.63995317T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63995317T>G , CM000682.2:g.63995317T>G	GRCh38
NC_000020.10:g.62626670T>G , CM000682.1:g.62626670T>G	GRCh37
NC_000020.9:g.62097114T>G	NCBI36
NG_029719.1:g.19240T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266079.5:c.616-10T>G (PRPF6) MANE Select	ENSP00000266079.4:n.616-10T>G
ENST00000217130.4:c.-6-27361A>C (ZNF512B)	ENSP00000217130.3:n.-6-27361A>C
ENST00000266079.4:c.616-10T>G (PRPF6)	ENSP00000266079.4:n.616-10T>G
ENST00000450537.5:c.-5-27362A>C (ZNF512B)	ENSP00000393795.1:n.-5-27362A>C
NM_012469.3:c.616-10T>G (PRPF6)	NP_036601.2:n.616-10T>G
XM_006723769.2:c.616-10T>G (PRPF6)	XP_006723832.1:n.616-10T>G
XM_006723769.3:c.616-10T>G (PRPF6)	XP_006723832.1:n.616-10T>G
NM_012469.4:c.616-10T>G (PRPF6) MANE Select	NP_036601.2:n.616-10T>G