Canonical Allele Identifier: CA9971957
Gene: PRPF6 HGNC NCBI
ZNF512B HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.63995317T>G
GRCh37 chr20:g.62626670T>G
gnomAD v2:
20:62626670 T / G
gnomAD v3:
20:63995317 T / G
gnomAD v4:
chr20-63995317-T-G
Joint Max Group AF 0.00003867 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00003728 (NFE)
ClinVar RCV:
RCV000383164
RCV002057751
ClinVar Variation:
339466
dbSNP:
376559986
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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
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