Canonical Allele Identifier: CA384668726
Community Standard Title: NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser)
Gene: DDX23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48832491A>C , CM000674.2:g.48832491A>C GRCh38
NC_000012.11:g.49226274A>C , CM000674.1:g.49226274A>C GRCh37
NC_000012.10:g.47512541A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004818.3:c.1886T>G MANE Select NP_004809.2:p.Ile629Ser
ENST00000308025.8:c.1886T>G MANE Select ENSP00000310723.2:p.Ile629Ser
NM_004818.2:c.1886T>G NP_004809.2:p.Ile629Ser
ENST00000308025.7:c.1886T>G ENSP00000310723.2:p.Ile629Ser
ENST00000547290.2:n.904T>G
ENST00000547842.1:n.330T>G
ENST00000549795.5:n.152T>G
ENST00000549795.6:n.1864T>G
ENST00000550834.1:c.411-1976T>G ENSP00000449657.1:n.411-1976T>G
ENST00000551098.6:n.2231T>G
ENST00000551331.1:n.425T>G
ENST00000552369.6:c.*1449T>G ENSP00000515224.1:n.*1449T>G
ENST00000552802.5:c.857T>G
ENST00000703178.1:n.497T>G
ENST00000703179.1:c.1775T>G ENSP00000515223.1:p.Ile592Ser
ENST00000703180.1:n.1848T>G
ENST00000703181.1:c.1629T>G
ENST00000703182.1:c.1408T>G ENSP00000515226.1:n.1408T>G