Canonical Allele Identifier: CA1007217

Gene: DDX20

Linked Data

• dbSNP Id: rs762617263
• ExAC: 1:112309133 T / C
• gnomAD v2: 1-112309133-T-C
• gnomAD v3: 1-111766511-T-C
• gnomAD v4: 1-111766511-T-C
• MyVariant Identifiers: chr1:g.112309133T>C (hg19) ; chr1:g.111766511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111766511T>C , CM000663.2:g.111766511T>C	GRCh38
NC_000001.10:g.112309133T>C , CM000663.1:g.112309133T>C	GRCh37
NC_000001.9:g.112110656T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369702.5:c.2087T>C MANE Select	ENSP00000358716.4:p.Leu696Ser
ENST00000533164.6:c.*1501T>C	ENSP00000434085.1:n.*1501T>C
ENST00000534200.2:n.3822T>C
ENST00000679381.1:n.2709T>C
ENST00000679498.1:n.3945T>C
ENST00000679576.1:c.2422T>C	ENSP00000506357.1:n.2422T>C
ENST00000679724.1:c.2087T>C	ENSP00000505857.1:p.Leu696Ser
ENST00000679774.1:n.3712T>C
ENST00000680038.1:n.3079T>C
ENST00000680317.1:n.2435T>C
ENST00000680383.1:c.*966T>C	ENSP00000505119.1:n.*966T>C
ENST00000680415.1:n.3418T>C
ENST00000680518.1:c.*813T>C	ENSP00000506543.1:n.*813T>C
ENST00000680627.1:c.2087T>C	ENSP00000505758.1:p.Leu696Ser
ENST00000680936.1:c.*1315T>C	ENSP00000506651.1:n.*1315T>C
ENST00000680983.1:n.1956T>C
ENST00000681529.1:n.2809T>C
ENST00000681559.1:c.*1264T>C	ENSP00000506100.1:n.*1264T>C
ENST00000681747.1:n.3087T>C
ENST00000369702.4:c.2087T>C	ENSP00000358716.4:p.Leu696Ser
ENST00000475700.1:c.911T>C	ENSP00000435660.1:p.Leu304Ser
NM_007204.4:c.2087T>C	NP_009135.4:p.Leu696Ser
NM_007204.5:c.2087T>C MANE Select	NP_009135.4:p.Leu696Ser