Canonical Allele Identifier: CA341649482

Gene: DDX20

Linked Data

• MyVariant Identifiers: chr1:g.112309126A>C (hg19) ; chr1:g.111766504A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111766504A>C , CM000663.2:g.111766504A>C	GRCh38
NC_000001.10:g.112309126A>C , CM000663.1:g.112309126A>C	GRCh37
NC_000001.9:g.112110649A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369702.5:c.2080A>C MANE Select	ENSP00000358716.4:p.Ile694Leu
ENST00000533164.6:c.*1494A>C	ENSP00000434085.1:n.*1494A>C
ENST00000534200.2:n.3815A>C
ENST00000679381.1:n.2702A>C
ENST00000679498.1:n.3938A>C
ENST00000679576.1:c.2415A>C	ENSP00000506357.1:n.2415A>C
ENST00000679724.1:c.2080A>C	ENSP00000505857.1:p.Ile694Leu
ENST00000679774.1:n.3705A>C
ENST00000680038.1:n.3072A>C
ENST00000680317.1:n.2428A>C
ENST00000680383.1:c.*959A>C	ENSP00000505119.1:n.*959A>C
ENST00000680415.1:n.3411A>C
ENST00000680518.1:c.*806A>C	ENSP00000506543.1:n.*806A>C
ENST00000680627.1:c.2080A>C	ENSP00000505758.1:p.Ile694Leu
ENST00000680936.1:c.*1308A>C	ENSP00000506651.1:n.*1308A>C
ENST00000680983.1:n.1949A>C
ENST00000681529.1:n.2802A>C
ENST00000681559.1:c.*1257A>C	ENSP00000506100.1:n.*1257A>C
ENST00000681747.1:n.3080A>C
ENST00000369702.4:c.2080A>C	ENSP00000358716.4:p.Ile694Leu
ENST00000475700.1:c.904A>C	ENSP00000435660.1:p.Ile302Leu
NM_007204.4:c.2080A>C	NP_009135.4:p.Ile694Leu
NM_007204.5:c.2080A>C MANE Select	NP_009135.4:p.Ile694Leu