Canonical Allele Identifier: CA270103
Gene: PRPF6 HGNC NCBI
ZNF512B HGNC NCBI

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)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'