Canonical Allele Identifier: CA270103

Gene: PRPF6 ZNF512B

Linked Data

• ClinVar Variation Id: 143142
• ClinVar RCV Id: RCV000132667
• dbSNP Id: rs527236096
• MyVariant Identifiers: chr20:g.62626380G>C (hg19) ; chr20:g.63995027G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63995027G>C , CM000682.2:g.63995027G>C	GRCh38
NC_000020.10:g.62626380G>C , CM000682.1:g.62626380G>C	GRCh37
NC_000020.9:g.62096824G>C	NCBI36
NG_029719.1:g.18950G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266079.5:c.550G>C (PRPF6) MANE Select	ENSP00000266079.4:p.Asp184His
ENST00000217130.4:c.-6-27071C>G (ZNF512B)	ENSP00000217130.3:n.-6-27071C>G
ENST00000266079.4:c.550G>C (PRPF6)	ENSP00000266079.4:p.Asp184His
ENST00000450537.5:c.-5-27072C>G (ZNF512B)	ENSP00000393795.1:n.-5-27072C>G
NM_012469.3:c.550G>C (PRPF6)	NP_036601.2:p.Asp184His
XM_006723769.2:c.550G>C (PRPF6)	XP_006723832.1:p.Asp184His
XM_006723769.3:c.550G>C (PRPF6)	XP_006723832.1:p.Asp184His
NM_012469.4:c.550G>C (PRPF6) MANE Select	NP_036601.2:p.Asp184His