Canonical Allele Identifier: CA1007215

Gene: DDX20

Linked Data

• dbSNP Id: rs764811129
• ExAC: 1:112309124 G / C
• gnomAD v2: 1-112309124-G-C
• gnomAD v4: 1-111766502-G-C
• MyVariant Identifiers: chr1:g.112309124G>C (hg19) ; chr1:g.111766502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111766502G>C , CM000663.2:g.111766502G>C	GRCh38
NC_000001.10:g.112309124G>C , CM000663.1:g.112309124G>C	GRCh37
NC_000001.9:g.112110647G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369702.5:c.2078G>C MANE Select	ENSP00000358716.4:p.Arg693Pro
ENST00000533164.6:c.*1492G>C	ENSP00000434085.1:n.*1492G>C
ENST00000534200.2:n.3813G>C
ENST00000679381.1:n.2700G>C
ENST00000679498.1:n.3936G>C
ENST00000679576.1:c.2413G>C	ENSP00000506357.1:n.2413G>C
ENST00000679724.1:c.2078G>C	ENSP00000505857.1:p.Arg693Pro
ENST00000679774.1:n.3703G>C
ENST00000680038.1:n.3070G>C
ENST00000680317.1:n.2426G>C
ENST00000680383.1:c.*957G>C	ENSP00000505119.1:n.*957G>C
ENST00000680415.1:n.3409G>C
ENST00000680518.1:c.*804G>C	ENSP00000506543.1:n.*804G>C
ENST00000680627.1:c.2078G>C	ENSP00000505758.1:p.Arg693Pro
ENST00000680936.1:c.*1306G>C	ENSP00000506651.1:n.*1306G>C
ENST00000680983.1:n.1947G>C
ENST00000681529.1:n.2800G>C
ENST00000681559.1:c.*1255G>C	ENSP00000506100.1:n.*1255G>C
ENST00000681747.1:n.3078G>C
ENST00000369702.4:c.2078G>C	ENSP00000358716.4:p.Arg693Pro
ENST00000475700.1:c.902G>C	ENSP00000435660.1:p.Arg301Pro
NM_007204.4:c.2078G>C	NP_009135.4:p.Arg693Pro
NM_007204.5:c.2078G>C MANE Select	NP_009135.4:p.Arg693Pro