Canonical Allele Identifier: CA341649497

Gene: DDX20

Linked Data

• dbSNP Id: rs2101427628
• MyVariant Identifiers: chr1:g.112309129T>C (hg19) ; chr1:g.111766507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111766507T>C , CM000663.2:g.111766507T>C	GRCh38
NC_000001.10:g.112309129T>C , CM000663.1:g.112309129T>C	GRCh37
NC_000001.9:g.112110652T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369702.5:c.2083T>C MANE Select	ENSP00000358716.4:p.Ser695Pro
ENST00000533164.6:c.*1497T>C	ENSP00000434085.1:n.*1497T>C
ENST00000534200.2:n.3818T>C
ENST00000679381.1:n.2705T>C
ENST00000679498.1:n.3941T>C
ENST00000679576.1:c.2418T>C	ENSP00000506357.1:n.2418T>C
ENST00000679724.1:c.2083T>C	ENSP00000505857.1:p.Ser695Pro
ENST00000679774.1:n.3708T>C
ENST00000680038.1:n.3075T>C
ENST00000680317.1:n.2431T>C
ENST00000680383.1:c.*962T>C	ENSP00000505119.1:n.*962T>C
ENST00000680415.1:n.3414T>C
ENST00000680518.1:c.*809T>C	ENSP00000506543.1:n.*809T>C
ENST00000680627.1:c.2083T>C	ENSP00000505758.1:p.Ser695Pro
ENST00000680936.1:c.*1311T>C	ENSP00000506651.1:n.*1311T>C
ENST00000680983.1:n.1952T>C
ENST00000681529.1:n.2805T>C
ENST00000681559.1:c.*1260T>C	ENSP00000506100.1:n.*1260T>C
ENST00000681747.1:n.3083T>C
ENST00000369702.4:c.2083T>C	ENSP00000358716.4:p.Ser695Pro
ENST00000475700.1:c.907T>C	ENSP00000435660.1:p.Ser303Pro
NM_007204.4:c.2083T>C	NP_009135.4:p.Ser695Pro
NM_007204.5:c.2083T>C MANE Select	NP_009135.4:p.Ser695Pro