Canonical Allele Identifier: CA319644
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 207818
dbSNP Id: rs796052236

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346403C>T , CM000685.2:g.41346403C>T GRCh38
NC_000023.10:g.41205656C>T , CM000685.1:g.41205656C>T GRCh37
NC_000023.9:g.41090600C>T NCBI36
NG_012830.1:g.18006C>T
NG_012830.2:g.18006C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1622C>T ENSP00000496052.2:p.Ala541Val
ENST00000399959.7:c.1487C>T ENSP00000382840.3:p.Ala496Val
ENST00000441189.4:c.1391C>T ENSP00000414281.3:p.Ala464Val
ENST00000457138.7:c.1442C>T ENSP00000392494.2:p.Ala481Val
ENST00000611968.2:c.84C>T
ENST00000616050.3:c.238C>T
ENST00000629496.3:c.1490C>T ENSP00000487224.1:p.Ala497Val
ENST00000642161.1:n.3689C>T
ENST00000642322.1:c.932C>T ENSP00000496052.1:p.Ala311Val
ENST00000642424.1:c.932C>T ENSP00000496356.1:p.Ala311Val
ENST00000642589.1:n.4812C>T
ENST00000642597.1:n.1664C>T
ENST00000642687.1:n.1523C>T
ENST00000642722.1:n.2323C>T
ENST00000642763.1:n.2381C>T
ENST00000642793.1:c.*939C>T ENSP00000493976.1:n.*939C>T
ENST00000642801.1:n.1139C>T
ENST00000643820.1:n.766C>T
ENST00000643963.1:c.*772C>T ENSP00000495264.1:n.*772C>T
ENST00000644073.1:c.1448C>T ENSP00000493475.1:p.Ala483Val
ENST00000644074.1:c.1487C>T ENSP00000496663.1:p.Ala496Val
ENST00000644109.1:c.1652C>T ENSP00000494952.1:p.Ala551Val
ENST00000644307.1:n.1660C>T
ENST00000644513.1:c.1490C>T ENSP00000493819.1:p.Ala497Val
ENST00000644677.1:c.1373C>T ENSP00000496524.1:p.Ala458Val
ENST00000644876.2:c.1490C>T MANE Select ENSP00000494040.1:p.Ala497Val
ENST00000644958.1:n.3151C>T
ENST00000645080.1:c.*2712C>T ENSP00000494767.1:n.*2712C>T
ENST00000645120.1:n.2985C>T
ENST00000645338.1:n.1660C>T
ENST00000645380.1:n.2954C>T
ENST00000645561.1:n.2666C>T
ENST00000645574.1:n.4354C>T
ENST00000645589.1:c.1490C>T ENSP00000494588.1:p.Ala497Val
ENST00000646107.1:c.1373C>T ENSP00000494518.1:p.Ala458Val
ENST00000646122.1:c.1490C>T ENSP00000496222.1:p.Ala497Val
ENST00000646196.1:n.2459C>T
ENST00000646223.1:c.*1483C>T ENSP00000496043.1:n.*1483C>T
ENST00000646319.1:c.1490C>T ENSP00000495377.1:p.Ala497Val
ENST00000646390.1:n.3778C>T
ENST00000646627.1:c.932C>T ENSP00000493795.1:p.Ala311Val
ENST00000646679.1:c.932C>T ENSP00000494887.1:p.Ala311Val
ENST00000646822.1:n.2552C>T
ENST00000646940.1:n.1664C>T
ENST00000647286.1:n.1588C>T
ENST00000647477.1:n.229C>T
ENST00000399959.6:c.1490C>T ENSP00000382840.2:p.Ala497Val
ENST00000441189.3:c.341-1237C>T ENSP00000414281.2:n.341-1237C>T
ENST00000457138.6:c.1442C>T ENSP00000392494.2:p.Ala481Val
ENST00000478993.5:c.1490C>T ENSP00000478443.1:p.Ala497Val
ENST00000542215.5:n.1538C>T
ENST00000616050.2:c.43C>T
ENST00000625837.2:c.1490C>T ENSP00000486306.1:p.Ala497Val
ENST00000626301.2:c.1490C>T ENSP00000486443.1:p.Ala497Val
ENST00000629496.2:c.1490C>T ENSP00000487224.1:p.Ala497Val
ENST00000629785.2:c.1490C>T ENSP00000486516.1:p.Ala497Val
ENST00000630255.2:c.1490C>T ENSP00000486720.1:p.Ala497Val
ENST00000630370.2:c.1490C>T ENSP00000487062.1:p.Ala497Val
ENST00000630858.2:c.1490C>T ENSP00000486514.1:p.Ala497Val
NM_001193416.2:c.1490C>T NP_001180345.1:p.Ala497Val
NM_001193417.2:c.1442C>T NP_001180346.1:p.Ala481Val
NM_001356.4:c.1490C>T NP_001347.3:p.Ala497Val
NR_126093.1:n.2435C>T
XM_011543892.1:c.1490C>T XP_011542194.1:p.Ala497Val
NM_001363819.1:c.932C>T NP_001350748.1:p.Ala311Val
XM_011543892.2:c.1490C>T XP_011542194.1:p.Ala497Val
XM_017029313.1:c.932C>T XP_016884802.1:p.Ala311Val
NM_001193416.3:c.1490C>T NP_001180345.1:p.Ala497Val
NM_001193417.3:c.1442C>T NP_001180346.1:p.Ala481Val
NM_001356.5:c.1490C>T MANE Select NP_001347.3:p.Ala497Val