Canonical Allele Identifier: CA341649471

Gene: DDX20

Linked Data

• dbSNP Id: rs197414
• gnomAD v2: 1-112309123-C-T
• gnomAD v3: 1-111766501-C-T
• gnomAD v4: 1-111766501-C-T
• MyVariant Identifiers: chr1:g.112309123C>T (hg19) ; chr1:g.111766501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111766501C>T , CM000663.2:g.111766501C>T	GRCh38
NC_000001.10:g.112309123C>T , CM000663.1:g.112309123C>T	GRCh37
NC_000001.9:g.112110646C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369702.5:c.2077C>T MANE Select	ENSP00000358716.4:p.Arg693Cys
ENST00000533164.6:c.*1491C>T	ENSP00000434085.1:n.*1491C>T
ENST00000534200.2:n.3812C>T
ENST00000679381.1:n.2699C>T
ENST00000679498.1:n.3935C>T
ENST00000679576.1:c.2412C>T	ENSP00000506357.1:n.2412C>T
ENST00000679724.1:c.2077C>T	ENSP00000505857.1:p.Arg693Cys
ENST00000679774.1:n.3702C>T
ENST00000680038.1:n.3069C>T
ENST00000680317.1:n.2425C>T
ENST00000680383.1:c.*956C>T	ENSP00000505119.1:n.*956C>T
ENST00000680415.1:n.3408C>T
ENST00000680518.1:c.*803C>T	ENSP00000506543.1:n.*803C>T
ENST00000680627.1:c.2077C>T	ENSP00000505758.1:p.Arg693Cys
ENST00000680936.1:c.*1305C>T	ENSP00000506651.1:n.*1305C>T
ENST00000680983.1:n.1946C>T
ENST00000681529.1:n.2799C>T
ENST00000681559.1:c.*1254C>T	ENSP00000506100.1:n.*1254C>T
ENST00000681747.1:n.3077C>T
ENST00000369702.4:c.2077C>T	ENSP00000358716.4:p.Arg693Cys
ENST00000475700.1:c.901C>T	ENSP00000435660.1:p.Arg301Cys
NM_007204.4:c.2077C>T	NP_009135.4:p.Arg693Cys
NM_007204.5:c.2077C>T MANE Select	NP_009135.4:p.Arg693Cys