Canonical Allele Identifier: CA16608468
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 383373
ClinVar RCV Id: RCV000434513
dbSNP Id: rs1057521603

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41344342C>T , CM000685.2:g.41344342C>T GRCh38
NC_000023.10:g.41203595C>T , CM000685.1:g.41203595C>T GRCh37
NC_000023.9:g.41088539C>T NCBI36
NG_012830.1:g.15945C>T
NG_012830.2:g.15945C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1100C>T ENSP00000496052.2:p.Thr367Ile
ENST00000399959.7:c.965C>T ENSP00000382840.3:p.Thr322Ile
ENST00000441189.4:c.869C>T ENSP00000414281.3:p.Thr290Ile
ENST00000457138.7:c.920C>T ENSP00000392494.2:p.Thr307Ile
ENST00000629496.3:c.968C>T ENSP00000487224.1:p.Thr323Ile
ENST00000631641.2:n.1011C>T
ENST00000642161.1:n.3167C>T
ENST00000642322.1:c.410C>T ENSP00000496052.1:p.Thr137Ile
ENST00000642424.1:c.410C>T ENSP00000496356.1:p.Thr137Ile
ENST00000642589.1:n.4290C>T
ENST00000642597.1:n.1142C>T
ENST00000642687.1:n.1001C>T
ENST00000642722.1:n.1801C>T
ENST00000642763.1:n.1859C>T
ENST00000642793.1:c.*417C>T ENSP00000493976.1:n.*417C>T
ENST00000642801.1:n.617C>T
ENST00000643820.1:n.244C>T
ENST00000643963.1:c.*250C>T ENSP00000495264.1:n.*250C>T
ENST00000644073.1:c.926C>T ENSP00000493475.1:p.Thr309Ile
ENST00000644074.1:c.965C>T ENSP00000496663.1:p.Thr322Ile
ENST00000644109.1:c.965C>T ENSP00000494952.1:p.Thr322Ile
ENST00000644307.1:n.1059C>T
ENST00000644513.1:c.968C>T ENSP00000493819.1:p.Thr323Ile
ENST00000644677.1:c.851C>T ENSP00000496524.1:p.Thr284Ile
ENST00000644876.2:c.968C>T MANE Select ENSP00000494040.1:p.Thr323Ile
ENST00000644958.1:n.2629C>T
ENST00000645080.1:c.*2190C>T ENSP00000494767.1:n.*2190C>T
ENST00000645120.1:n.2463C>T
ENST00000645338.1:n.1059C>T
ENST00000645380.1:n.2353C>T
ENST00000645561.1:n.2144C>T
ENST00000645574.1:n.3832C>T
ENST00000645589.1:c.968C>T ENSP00000494588.1:p.Thr323Ile
ENST00000646093.1:n.152C>T
ENST00000646107.1:c.851C>T ENSP00000494518.1:p.Thr284Ile
ENST00000646122.1:c.968C>T ENSP00000496222.1:p.Thr323Ile
ENST00000646196.1:n.1937C>T
ENST00000646223.1:c.*961C>T ENSP00000496043.1:n.*961C>T
ENST00000646319.1:c.968C>T ENSP00000495377.1:p.Thr323Ile
ENST00000646390.1:n.3256C>T
ENST00000646627.1:c.410C>T ENSP00000493795.1:p.Thr137Ile
ENST00000646679.1:c.410C>T ENSP00000494887.1:p.Thr137Ile
ENST00000646822.1:n.2030C>T
ENST00000646940.1:n.1142C>T
ENST00000647286.1:n.1066C>T
ENST00000399959.6:c.968C>T ENSP00000382840.2:p.Thr323Ile
ENST00000441189.3:c.340+1792C>T ENSP00000414281.2:n.340+1792C>T
ENST00000457138.6:c.920C>T ENSP00000392494.2:p.Thr307Ile
ENST00000478993.5:c.968C>T ENSP00000478443.1:p.Thr323Ile
ENST00000542215.5:n.1016C>T
ENST00000625837.2:c.968C>T ENSP00000486306.1:p.Thr323Ile
ENST00000626301.2:c.968C>T ENSP00000486443.1:p.Thr323Ile
ENST00000629496.2:c.968C>T ENSP00000487224.1:p.Thr323Ile
ENST00000629785.2:c.968C>T ENSP00000486516.1:p.Thr323Ile
ENST00000630255.2:c.968C>T ENSP00000486720.1:p.Thr323Ile
ENST00000630370.2:c.968C>T ENSP00000487062.1:p.Thr323Ile
ENST00000630858.2:c.968C>T ENSP00000486514.1:p.Thr323Ile
NM_001193416.2:c.968C>T NP_001180345.1:p.Thr323Ile
NM_001193417.2:c.920C>T NP_001180346.1:p.Thr307Ile
NM_001356.4:c.968C>T NP_001347.3:p.Thr323Ile
NR_126093.1:n.1913C>T
XM_011543892.1:c.968C>T XP_011542194.1:p.Thr323Ile
NM_001363819.1:c.410C>T NP_001350748.1:p.Thr137Ile
XM_011543892.2:c.968C>T XP_011542194.1:p.Thr323Ile
XM_017029313.1:c.410C>T XP_016884802.1:p.Thr137Ile
NM_001193416.3:c.968C>T NP_001180345.1:p.Thr323Ile
NM_001193417.3:c.920C>T NP_001180346.1:p.Thr307Ile
NM_001356.5:c.968C>T MANE Select NP_001347.3:p.Thr323Ile