Canonical Allele Identifier: CA16608473
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 381804
ClinVar RCV Id: RCV000424111
dbSNP Id: rs1057521175

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346910T>C , CM000685.2:g.41346910T>C GRCh38
NC_000023.10:g.41206163T>C , CM000685.1:g.41206163T>C GRCh37
NC_000023.9:g.41091107T>C NCBI36
NG_012830.1:g.18513T>C
NG_012830.2:g.18513T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1799T>C ENSP00000496052.2:p.Leu600Ser
ENST00000399959.7:c.1664T>C ENSP00000382840.3:p.Leu555Ser
ENST00000441189.4:c.1568T>C ENSP00000414281.3:p.Leu523Ser
ENST00000457138.7:c.1619T>C ENSP00000392494.2:p.Leu540Ser
ENST00000611968.2:c.261T>C
ENST00000616050.3:c.415T>C
ENST00000629496.3:c.1667T>C ENSP00000487224.1:p.Leu556Ser
ENST00000642161.1:n.3866T>C
ENST00000642322.1:c.1109T>C ENSP00000496052.1:p.Leu370Ser
ENST00000642424.1:c.1109T>C ENSP00000496356.1:p.Leu370Ser
ENST00000642589.1:n.4989T>C
ENST00000642597.1:n.1841T>C
ENST00000642687.1:n.1700T>C
ENST00000642722.1:n.2500T>C
ENST00000642763.1:n.2558T>C
ENST00000642793.1:c.*1116T>C ENSP00000493976.1:n.*1116T>C
ENST00000642801.1:n.1316T>C
ENST00000643820.1:n.1037T>C
ENST00000643963.1:c.*949T>C ENSP00000495264.1:n.*949T>C
ENST00000644073.1:c.1625T>C ENSP00000493475.1:p.Leu542Ser
ENST00000644074.1:c.1664T>C ENSP00000496663.1:p.Leu555Ser
ENST00000644109.1:c.1829T>C ENSP00000494952.1:p.Leu610Ser
ENST00000644307.1:n.1837T>C
ENST00000644513.1:c.1667T>C ENSP00000493819.1:p.Leu556Ser
ENST00000644677.1:c.1550T>C ENSP00000496524.1:p.Leu517Ser
ENST00000644876.2:c.1667T>C MANE Select ENSP00000494040.1:p.Leu556Ser
ENST00000644958.1:n.3328T>C
ENST00000645080.1:c.*2889T>C ENSP00000494767.1:n.*2889T>C
ENST00000645120.1:n.3162T>C
ENST00000645338.1:n.1837T>C
ENST00000645380.1:n.3131T>C
ENST00000645561.1:n.2843T>C
ENST00000645574.1:n.4531T>C
ENST00000645589.1:c.*166T>C ENSP00000494588.1:n.*166T>C
ENST00000646107.1:c.1550T>C ENSP00000494518.1:p.Leu517Ser
ENST00000646122.1:c.1667T>C ENSP00000496222.1:p.Leu556Ser
ENST00000646196.1:n.2636T>C
ENST00000646223.1:c.*1660T>C ENSP00000496043.1:n.*1660T>C
ENST00000646319.1:c.1667T>C ENSP00000495377.1:p.Leu556Ser
ENST00000646390.1:n.3955T>C
ENST00000646627.1:c.1109T>C ENSP00000493795.1:p.Leu370Ser
ENST00000646679.1:c.1109T>C ENSP00000494887.1:p.Leu370Ser
ENST00000646822.1:n.2729T>C
ENST00000646940.1:n.1841T>C
ENST00000647286.1:n.1765T>C
ENST00000647477.1:n.406T>C
ENST00000399959.6:c.1667T>C ENSP00000382840.2:p.Leu556Ser
ENST00000441189.3:c.341-730T>C ENSP00000414281.2:n.341-730T>C
ENST00000457138.6:c.1619T>C ENSP00000392494.2:p.Leu540Ser
ENST00000478993.5:c.1667T>C ENSP00000478443.1:p.Leu556Ser
ENST00000611968.1:c.109T>C
ENST00000616050.2:c.220T>C
ENST00000625837.2:c.1667T>C ENSP00000486306.1:p.Leu556Ser
ENST00000626301.2:c.1667T>C ENSP00000486443.1:p.Leu556Ser
ENST00000629496.2:c.1667T>C ENSP00000487224.1:p.Leu556Ser
ENST00000629785.2:c.1667T>C ENSP00000486516.1:p.Leu556Ser
ENST00000630255.2:c.1667T>C ENSP00000486720.1:p.Leu556Ser
ENST00000630370.2:c.1667T>C ENSP00000487062.1:p.Leu556Ser
ENST00000630858.2:c.1667T>C ENSP00000486514.1:p.Leu556Ser
NM_001193416.2:c.1667T>C NP_001180345.1:p.Leu556Ser
NM_001193417.2:c.1619T>C NP_001180346.1:p.Leu540Ser
NM_001356.4:c.1667T>C NP_001347.3:p.Leu556Ser
NR_126093.1:n.2612T>C
XM_011543892.1:c.1667T>C XP_011542194.1:p.Leu556Ser
NM_001363819.1:c.1109T>C NP_001350748.1:p.Leu370Ser
XM_011543892.2:c.1667T>C XP_011542194.1:p.Leu556Ser
XM_017029313.1:c.1109T>C XP_016884802.1:p.Leu370Ser
NM_001193416.3:c.1667T>C NP_001180345.1:p.Leu556Ser
NM_001193417.3:c.1619T>C NP_001180346.1:p.Leu540Ser
NM_001356.5:c.1667T>C MANE Select NP_001347.3:p.Leu556Ser