Canonical Allele Identifier: CA341649516

Gene: DDX20

Linked Data

• gnomAD v4: 1-111766513-G-A
• MyVariant Identifiers: chr1:g.112309135G>A (hg19) ; chr1:g.111766513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111766513G>A , CM000663.2:g.111766513G>A	GRCh38
NC_000001.10:g.112309135G>A , CM000663.1:g.112309135G>A	GRCh37
NC_000001.9:g.112110658G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369702.5:c.2089G>A MANE Select	ENSP00000358716.4:p.Glu697Lys
ENST00000533164.6:c.*1503G>A	ENSP00000434085.1:n.*1503G>A
ENST00000534200.2:n.3824G>A
ENST00000679381.1:n.2711G>A
ENST00000679498.1:n.3947G>A
ENST00000679576.1:c.2424G>A	ENSP00000506357.1:n.2424G>A
ENST00000679724.1:c.2089G>A	ENSP00000505857.1:p.Glu697Lys
ENST00000679774.1:n.3714G>A
ENST00000680038.1:n.3081G>A
ENST00000680317.1:n.2437G>A
ENST00000680383.1:c.*968G>A	ENSP00000505119.1:n.*968G>A
ENST00000680415.1:n.3420G>A
ENST00000680518.1:c.*815G>A	ENSP00000506543.1:n.*815G>A
ENST00000680627.1:c.2089G>A	ENSP00000505758.1:p.Glu697Lys
ENST00000680936.1:c.*1317G>A	ENSP00000506651.1:n.*1317G>A
ENST00000680983.1:n.1958G>A
ENST00000681529.1:n.2811G>A
ENST00000681559.1:c.*1266G>A	ENSP00000506100.1:n.*1266G>A
ENST00000681747.1:n.3089G>A
ENST00000369702.4:c.2089G>A	ENSP00000358716.4:p.Glu697Lys
ENST00000475700.1:c.913G>A	ENSP00000435660.1:p.Glu305Lys
NM_007204.4:c.2089G>A	NP_009135.4:p.Glu697Lys
NM_007204.5:c.2089G>A MANE Select	NP_009135.4:p.Glu697Lys