Canonical Allele Identifier: CA2693488278
Gene: DDX3X HGNC NCBI

Linked Data

gnomAD v4: X-41346108-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346108G>T , CM000685.2:g.41346108G>T GRCh38
NC_000023.10:g.41205361G>T , CM000685.1:g.41205361G>T GRCh37
NC_000023.9:g.41090305G>T NCBI36
NG_012830.1:g.17711G>T
NG_012830.2:g.17711G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642322.2:c.1448-121G>T ENSP00000496052.2:n.1448-121G>T
ENST00000399959.7:c.1313-121G>T ENSP00000382840.3:n.1313-121G>T
ENST00000441189.4:c.1217-121G>T ENSP00000414281.3:n.1217-121G>T
ENST00000457138.7:c.1268-121G>T ENSP00000392494.2:n.1268-121G>T
ENST00000616050.3:c.64-121G>T
ENST00000629496.3:c.1316-121G>T ENSP00000487224.1:n.1316-121G>T
ENST00000642161.1:n.3515-121G>T
ENST00000642322.1:c.758-121G>T ENSP00000496052.1:n.758-121G>T
ENST00000642424.1:c.758-121G>T ENSP00000496356.1:n.758-121G>T
ENST00000642589.1:n.4638-121G>T
ENST00000642597.1:n.1490-121G>T
ENST00000642687.1:n.1349-121G>T
ENST00000642722.1:n.2149-121G>T
ENST00000642763.1:n.2207-121G>T
ENST00000642793.1:c.*765-121G>T ENSP00000493976.1:n.*765-121G>T
ENST00000642801.1:n.965-121G>T
ENST00000643820.1:n.592-121G>T
ENST00000643963.1:c.*598-121G>T ENSP00000495264.1:n.*598-121G>T
ENST00000644073.1:c.1274-121G>T ENSP00000493475.1:n.1274-121G>T
ENST00000644074.1:c.1313-121G>T ENSP00000496663.1:n.1313-121G>T
ENST00000644109.1:c.1478-121G>T ENSP00000494952.1:n.1478-121G>T
ENST00000644307.1:n.1486-121G>T
ENST00000644513.1:c.1316-121G>T ENSP00000493819.1:n.1316-121G>T
ENST00000644677.1:c.1199-121G>T ENSP00000496524.1:n.1199-121G>T
ENST00000644876.2:c.1316-121G>T MANE Select ENSP00000494040.1:n.1316-121G>T
ENST00000644958.1:n.2977-121G>T
ENST00000645080.1:c.*2538-121G>T ENSP00000494767.1:n.*2538-121G>T
ENST00000645120.1:n.2811-121G>T
ENST00000645338.1:n.1486-121G>T
ENST00000645380.1:n.2780-121G>T
ENST00000645561.1:n.2492-121G>T
ENST00000645574.1:n.4180-121G>T
ENST00000645589.1:c.1316-121G>T ENSP00000494588.1:n.1316-121G>T
ENST00000646093.1:n.500-121G>T
ENST00000646107.1:c.1199-121G>T ENSP00000494518.1:n.1199-121G>T
ENST00000646122.1:c.1316-121G>T ENSP00000496222.1:n.1316-121G>T
ENST00000646196.1:n.2285-121G>T
ENST00000646223.1:c.*1309-121G>T ENSP00000496043.1:n.*1309-121G>T
ENST00000646319.1:c.1316-121G>T ENSP00000495377.1:n.1316-121G>T
ENST00000646390.1:n.3604-121G>T
ENST00000646627.1:c.758-121G>T ENSP00000493795.1:n.758-121G>T
ENST00000646679.1:c.758-121G>T ENSP00000494887.1:n.758-121G>T
ENST00000646822.1:n.2378-121G>T
ENST00000646940.1:n.1490-121G>T
ENST00000647286.1:n.1414-121G>T
ENST00000647477.1:n.55-121G>T
ENST00000399959.6:c.1316-121G>T ENSP00000382840.2:n.1316-121G>T
ENST00000441189.3:c.341-1532G>T ENSP00000414281.2:n.341-1532G>T
ENST00000457138.6:c.1268-121G>T ENSP00000392494.2:n.1268-121G>T
ENST00000478993.5:c.1316-121G>T ENSP00000478443.1:n.1316-121G>T
ENST00000542215.5:n.1364-121G>T
ENST00000625837.2:c.1316-121G>T ENSP00000486306.1:n.1316-121G>T
ENST00000626301.2:c.1316-121G>T ENSP00000486443.1:n.1316-121G>T
ENST00000629496.2:c.1316-121G>T ENSP00000487224.1:n.1316-121G>T
ENST00000629785.2:c.1316-121G>T ENSP00000486516.1:n.1316-121G>T
ENST00000630255.2:c.1316-121G>T ENSP00000486720.1:n.1316-121G>T
ENST00000630370.2:c.1316-121G>T ENSP00000487062.1:n.1316-121G>T
ENST00000630858.2:c.1316-121G>T ENSP00000486514.1:n.1316-121G>T
NM_001193416.2:c.1316-121G>T NP_001180345.1:n.1316-121G>T
NM_001193417.2:c.1268-121G>T NP_001180346.1:n.1268-121G>T
NM_001356.4:c.1316-121G>T NP_001347.3:n.1316-121G>T
NR_126093.1:n.2261-121G>T
XM_011543892.1:c.1316-121G>T XP_011542194.1:n.1316-121G>T
NM_001363819.1:c.758-121G>T NP_001350748.1:n.758-121G>T
XM_011543892.2:c.1316-121G>T XP_011542194.1:n.1316-121G>T
XM_017029313.1:c.758-121G>T XP_016884802.1:n.758-121G>T
NM_001193416.3:c.1316-121G>T NP_001180345.1:n.1316-121G>T
NM_001193417.3:c.1268-121G>T NP_001180346.1:n.1268-121G>T
NM_001356.5:c.1316-121G>T MANE Select NP_001347.3:n.1316-121G>T