Canonical Allele Identifier: CA16043317
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 373151
ClinVar RCV Id: RCV000413345
dbSNP Id: rs1057518255

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346397T>C , CM000685.2:g.41346397T>C GRCh38
NC_000023.10:g.41205650T>C , CM000685.1:g.41205650T>C GRCh37
NC_000023.9:g.41090594T>C NCBI36
NG_012830.1:g.18000T>C
NG_012830.2:g.18000T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1616T>C ENSP00000496052.2:p.Leu539Ser
ENST00000399959.7:c.1481T>C ENSP00000382840.3:p.Leu494Ser
ENST00000441189.4:c.1385T>C ENSP00000414281.3:p.Leu462Ser
ENST00000457138.7:c.1436T>C ENSP00000392494.2:p.Leu479Ser
ENST00000611968.2:c.78T>C
ENST00000616050.3:c.232T>C
ENST00000629496.3:c.1484T>C ENSP00000487224.1:p.Leu495Ser
ENST00000642161.1:n.3683T>C
ENST00000642322.1:c.926T>C ENSP00000496052.1:p.Leu309Ser
ENST00000642424.1:c.926T>C ENSP00000496356.1:p.Leu309Ser
ENST00000642589.1:n.4806T>C
ENST00000642597.1:n.1658T>C
ENST00000642687.1:n.1517T>C
ENST00000642722.1:n.2317T>C
ENST00000642763.1:n.2375T>C
ENST00000642793.1:c.*933T>C ENSP00000493976.1:n.*933T>C
ENST00000642801.1:n.1133T>C
ENST00000643820.1:n.760T>C
ENST00000643963.1:c.*766T>C ENSP00000495264.1:n.*766T>C
ENST00000644073.1:c.1442T>C ENSP00000493475.1:p.Leu481Ser
ENST00000644074.1:c.1481T>C ENSP00000496663.1:p.Leu494Ser
ENST00000644109.1:c.1646T>C ENSP00000494952.1:p.Leu549Ser
ENST00000644307.1:n.1654T>C
ENST00000644513.1:c.1484T>C ENSP00000493819.1:p.Leu495Ser
ENST00000644677.1:c.1367T>C ENSP00000496524.1:p.Leu456Ser
ENST00000644876.2:c.1484T>C MANE Select ENSP00000494040.1:p.Leu495Ser
ENST00000644958.1:n.3145T>C
ENST00000645080.1:c.*2706T>C ENSP00000494767.1:n.*2706T>C
ENST00000645120.1:n.2979T>C
ENST00000645338.1:n.1654T>C
ENST00000645380.1:n.2948T>C
ENST00000645561.1:n.2660T>C
ENST00000645574.1:n.4348T>C
ENST00000645589.1:c.1484T>C ENSP00000494588.1:p.Leu495Ser
ENST00000646107.1:c.1367T>C ENSP00000494518.1:p.Leu456Ser
ENST00000646122.1:c.1484T>C ENSP00000496222.1:p.Leu495Ser
ENST00000646196.1:n.2453T>C
ENST00000646223.1:c.*1477T>C ENSP00000496043.1:n.*1477T>C
ENST00000646319.1:c.1484T>C ENSP00000495377.1:p.Leu495Ser
ENST00000646390.1:n.3772T>C
ENST00000646627.1:c.926T>C ENSP00000493795.1:p.Leu309Ser
ENST00000646679.1:c.926T>C ENSP00000494887.1:p.Leu309Ser
ENST00000646822.1:n.2546T>C
ENST00000646940.1:n.1658T>C
ENST00000647286.1:n.1582T>C
ENST00000647477.1:n.223T>C
ENST00000399959.6:c.1484T>C ENSP00000382840.2:p.Leu495Ser
ENST00000441189.3:c.341-1243T>C ENSP00000414281.2:n.341-1243T>C
ENST00000457138.6:c.1436T>C ENSP00000392494.2:p.Leu479Ser
ENST00000478993.5:c.1484T>C ENSP00000478443.1:p.Leu495Ser
ENST00000542215.5:n.1532T>C
ENST00000616050.2:c.37T>C
ENST00000625837.2:c.1484T>C ENSP00000486306.1:p.Leu495Ser
ENST00000626301.2:c.1484T>C ENSP00000486443.1:p.Leu495Ser
ENST00000629496.2:c.1484T>C ENSP00000487224.1:p.Leu495Ser
ENST00000629785.2:c.1484T>C ENSP00000486516.1:p.Leu495Ser
ENST00000630255.2:c.1484T>C ENSP00000486720.1:p.Leu495Ser
ENST00000630370.2:c.1484T>C ENSP00000487062.1:p.Leu495Ser
ENST00000630858.2:c.1484T>C ENSP00000486514.1:p.Leu495Ser
NM_001193416.2:c.1484T>C NP_001180345.1:p.Leu495Ser
NM_001193417.2:c.1436T>C NP_001180346.1:p.Leu479Ser
NM_001356.4:c.1484T>C NP_001347.3:p.Leu495Ser
NR_126093.1:n.2429T>C
XM_011543892.1:c.1484T>C XP_011542194.1:p.Leu495Ser
NM_001363819.1:c.926T>C NP_001350748.1:p.Leu309Ser
XM_011543892.2:c.1484T>C XP_011542194.1:p.Leu495Ser
XM_017029313.1:c.926T>C XP_016884802.1:p.Leu309Ser
NM_001193416.3:c.1484T>C NP_001180345.1:p.Leu495Ser
NM_001193417.3:c.1436T>C NP_001180346.1:p.Leu479Ser
NM_001356.5:c.1484T>C MANE Select NP_001347.3:p.Leu495Ser