Canonical Allele Identifier: CA9971813
Gene: PRPF6 HGNC NCBI
ZNF512B HGNC NCBI

Linked Data

ClinVar Variation Id: 339464
ClinVar RCV Id: RCV000288447 RCV000961721 RCV002502310
dbSNP Id: rs34062309
ExAC: 20:62614448 A / G
gnomAD v2: 20-62614448-A-G
gnomAD v3: 20-63983095-A-G
gnomAD v4: 20-63983095-A-G
MyVariant Identifiers: chr20:g.62614448A>G (hg19) chr20:g.63983095A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63983095A>G , CM000682.2:g.63983095A>G GRCh38
NC_000020.10:g.62614448A>G , CM000682.1:g.62614448A>G GRCh37
NC_000020.9:g.62084892A>G NCBI36
NG_029719.1:g.7018A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266079.5:c.120A>G (PRPF6) MANE Select ENSP00000266079.4:p.Ala40=
ENST00000217130.4:c.-6-15139T>C (ZNF512B) ENSP00000217130.3:n.-6-15139T>C
ENST00000266079.4:c.120A>G (PRPF6) ENSP00000266079.4:p.Ala40=
ENST00000450537.5:c.-5-15140T>C (ZNF512B) ENSP00000393795.1:n.-5-15140T>C
NM_012469.3:c.120A>G (PRPF6) NP_036601.2:p.Ala40=
XM_006723769.2:c.120A>G (PRPF6) XP_006723832.1:p.Ala40=
XM_006723769.3:c.120A>G (PRPF6) XP_006723832.1:p.Ala40=
NM_012469.4:c.120A>G (PRPF6) MANE Select NP_036601.2:p.Ala40=
Search 100 bp 5'
Search 100 bp 3'