Canonical Allele Identifier: CA314160895

Gene: PHF20

Linked Data

• dbSNP Id: rs969649715
• gnomAD v3: 20-35795616-G-A
• gnomAD v4: 20-35795616-G-A
• MyVariant Identifiers: chr20:g.34383538G>A (hg19) ; chr20:g.35795616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35795616G>A , CM000682.2:g.35795616G>A	GRCh38
NC_000020.10:g.34383538G>A , CM000682.1:g.34383538G>A	GRCh37
NC_000020.9:g.33846952G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374012.8:c.-32-5875G>A MANE Select	ENSP00000363124.3:n.-32-5875G>A
ENST00000339089.10:c.-32-5875G>A	ENSP00000341900.6:n.-32-5875G>A
ENST00000374000.8:c.-112-4478G>A	ENSP00000363112.4:n.-112-4478G>A
ENST00000374012.7:c.-32-5875G>A	ENSP00000363124.3:n.-32-5875G>A
ENST00000452270.5:c.-32-5875G>A	ENSP00000404455.1:n.-32-5875G>A
ENST00000461122.5:n.106+23537G>A
ENST00000461405.1:n.69-5875G>A
ENST00000481202.5:n.55-5875G>A
NM_016436.4:c.-32-5875G>A	NP_057520.2:n.-32-5875G>A
XM_011528842.1:c.-32-5875G>A	XP_011527144.1:n.-32-5875G>A
XM_011528843.1:c.-853-5875G>A	XP_011527145.1:n.-853-5875G>A
XM_011528845.1:c.-950-5875G>A	XP_011527147.1:n.-950-5875G>A
XM_011528843.2:c.-853-5875G>A	XP_011527145.1:n.-853-5875G>A
XM_017027868.2:c.-32-5875G>A	XP_016883357.1:n.-32-5875G>A
XM_017027869.2:c.-380-4478G>A	XP_016883358.1:n.-380-4478G>A
XM_017027870.2:c.-397-5875G>A	XP_016883359.1:n.-397-5875G>A
XM_017027871.2:c.-1338-5875G>A	XP_016883360.1:n.-1338-5875G>A
XM_024451889.1:c.-300-5875G>A	XP_024307657.1:n.-300-5875G>A
XM_024451890.1:c.-1606-5875G>A	XP_024307658.1:n.-1606-5875G>A
NM_016436.5:c.-32-5875G>A MANE Select	NP_057520.2:n.-32-5875G>A