Canonical Allele Identifier: CA341649500

Gene: DDX20

Linked Data

• MyVariant Identifiers: chr1:g.112309130C>T (hg19) ; chr1:g.111766508C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111766508C>T , CM000663.2:g.111766508C>T	GRCh38
NC_000001.10:g.112309130C>T , CM000663.1:g.112309130C>T	GRCh37
NC_000001.9:g.112110653C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369702.5:c.2084C>T MANE Select	ENSP00000358716.4:p.Ser695Phe
ENST00000533164.6:c.*1498C>T	ENSP00000434085.1:n.*1498C>T
ENST00000534200.2:n.3819C>T
ENST00000679381.1:n.2706C>T
ENST00000679498.1:n.3942C>T
ENST00000679576.1:c.2419C>T	ENSP00000506357.1:n.2419C>T
ENST00000679724.1:c.2084C>T	ENSP00000505857.1:p.Ser695Phe
ENST00000679774.1:n.3709C>T
ENST00000680038.1:n.3076C>T
ENST00000680317.1:n.2432C>T
ENST00000680383.1:c.*963C>T	ENSP00000505119.1:n.*963C>T
ENST00000680415.1:n.3415C>T
ENST00000680518.1:c.*810C>T	ENSP00000506543.1:n.*810C>T
ENST00000680627.1:c.2084C>T	ENSP00000505758.1:p.Ser695Phe
ENST00000680936.1:c.*1312C>T	ENSP00000506651.1:n.*1312C>T
ENST00000680983.1:n.1953C>T
ENST00000681529.1:n.2806C>T
ENST00000681559.1:c.*1261C>T	ENSP00000506100.1:n.*1261C>T
ENST00000681747.1:n.3084C>T
ENST00000369702.4:c.2084C>T	ENSP00000358716.4:p.Ser695Phe
ENST00000475700.1:c.908C>T	ENSP00000435660.1:p.Ser303Phe
NM_007204.4:c.2084C>T	NP_009135.4:p.Ser695Phe
NM_007204.5:c.2084C>T MANE Select	NP_009135.4:p.Ser695Phe