Canonical Allele Identifier: CA419696414

Gene: DDX20

Linked Data

• dbSNP Id: rs1663783962
• gnomAD v4: 1-111766503-T-C
• COSMIC: COSM2119649
• MyVariant Identifiers: chr1:g.112309125T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111766503T>C , CM000663.2:g.111766503T>C	GRCh38
NC_000001.10:g.112309125T>C , CM000663.1:g.112309125T>C	GRCh37
NC_000001.9:g.112110648T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369702.5:c.2079T>C MANE Select	ENSP00000358716.4:p.Arg693=
ENST00000533164.6:c.*1493T>C	ENSP00000434085.1:n.*1493T>C
ENST00000534200.2:n.3814T>C
ENST00000679381.1:n.2701T>C
ENST00000679498.1:n.3937T>C
ENST00000679576.1:c.2414T>C	ENSP00000506357.1:n.2414T>C
ENST00000679724.1:c.2079T>C	ENSP00000505857.1:p.Arg693=
ENST00000679774.1:n.3704T>C
ENST00000680038.1:n.3071T>C
ENST00000680317.1:n.2427T>C
ENST00000680383.1:c.*958T>C	ENSP00000505119.1:n.*958T>C
ENST00000680415.1:n.3410T>C
ENST00000680518.1:c.*805T>C	ENSP00000506543.1:n.*805T>C
ENST00000680627.1:c.2079T>C	ENSP00000505758.1:p.Arg693=
ENST00000680936.1:c.*1307T>C	ENSP00000506651.1:n.*1307T>C
ENST00000680983.1:n.1948T>C
ENST00000681529.1:n.2801T>C
ENST00000681559.1:c.*1256T>C	ENSP00000506100.1:n.*1256T>C
ENST00000681747.1:n.3079T>C
ENST00000369702.4:c.2079T>C	ENSP00000358716.4:p.Arg693=
ENST00000475700.1:c.903T>C	ENSP00000435660.1:p.Arg301=
NM_007204.4:c.2079T>C	NP_009135.4:p.Arg693=
NM_007204.5:c.2079T>C MANE Select	NP_009135.4:p.Arg693=