Canonical Allele Identifier: CA16043708
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 374335
ClinVar RCV Id: RCV000414932
dbSNP Id: rs1057518707

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41345206G>A , CM000685.2:g.41345206G>A GRCh38
NC_000023.10:g.41204459G>A , CM000685.1:g.41204459G>A GRCh37
NC_000023.9:g.41089403G>A NCBI36
NG_012830.1:g.16809G>A
NG_012830.2:g.16809G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1184G>A ENSP00000496052.2:p.Arg395Gln
ENST00000399959.7:c.1049G>A ENSP00000382840.3:p.Arg350Gln
ENST00000441189.4:c.953G>A ENSP00000414281.3:p.Arg318Gln
ENST00000457138.7:c.1004G>A ENSP00000392494.2:p.Arg335Gln
ENST00000629496.3:c.1052G>A ENSP00000487224.1:p.Arg351Gln
ENST00000642161.1:n.3251G>A
ENST00000642322.1:c.494G>A ENSP00000496052.1:p.Arg165Gln
ENST00000642424.1:c.494G>A ENSP00000496356.1:p.Arg165Gln
ENST00000642589.1:n.4374G>A
ENST00000642597.1:n.1226G>A
ENST00000642687.1:n.1085G>A
ENST00000642722.1:n.1885G>A
ENST00000642763.1:n.1943G>A
ENST00000642793.1:c.*501G>A ENSP00000493976.1:n.*501G>A
ENST00000642801.1:n.701G>A
ENST00000643820.1:n.328G>A
ENST00000643963.1:c.*334G>A ENSP00000495264.1:n.*334G>A
ENST00000644073.1:c.1010G>A ENSP00000493475.1:p.Arg337Gln
ENST00000644074.1:c.1049G>A ENSP00000496663.1:p.Arg350Gln
ENST00000644109.1:c.1214G>A ENSP00000494952.1:p.Arg405Gln
ENST00000644307.1:n.1143G>A
ENST00000644513.1:c.1052G>A ENSP00000493819.1:p.Arg351Gln
ENST00000644677.1:c.935G>A ENSP00000496524.1:p.Arg312Gln
ENST00000644876.2:c.1052G>A MANE Select ENSP00000494040.1:p.Arg351Gln
ENST00000644958.1:n.2713G>A
ENST00000645080.1:c.*2274G>A ENSP00000494767.1:n.*2274G>A
ENST00000645120.1:n.2547G>A
ENST00000645338.1:n.1143G>A
ENST00000645380.1:n.2437G>A
ENST00000645561.1:n.2228G>A
ENST00000645574.1:n.3916G>A
ENST00000645589.1:c.1052G>A ENSP00000494588.1:p.Arg351Gln
ENST00000646093.1:n.236G>A
ENST00000646107.1:c.935G>A ENSP00000494518.1:p.Arg312Gln
ENST00000646122.1:c.1052G>A ENSP00000496222.1:p.Arg351Gln
ENST00000646196.1:n.2021G>A
ENST00000646223.1:c.*1045G>A ENSP00000496043.1:n.*1045G>A
ENST00000646319.1:c.1052G>A ENSP00000495377.1:p.Arg351Gln
ENST00000646390.1:n.3340G>A
ENST00000646627.1:c.494G>A ENSP00000493795.1:p.Arg165Gln
ENST00000646679.1:c.494G>A ENSP00000494887.1:p.Arg165Gln
ENST00000646822.1:n.2114G>A
ENST00000646940.1:n.1226G>A
ENST00000647286.1:n.1150G>A
ENST00000399959.6:c.1052G>A ENSP00000382840.2:p.Arg351Gln
ENST00000441189.3:c.341-2434G>A ENSP00000414281.2:n.341-2434G>A
ENST00000457138.6:c.1004G>A ENSP00000392494.2:p.Arg335Gln
ENST00000478993.5:c.1052G>A ENSP00000478443.1:p.Arg351Gln
ENST00000542215.5:n.1100G>A
ENST00000625837.2:c.1052G>A ENSP00000486306.1:p.Arg351Gln
ENST00000626301.2:c.1052G>A ENSP00000486443.1:p.Arg351Gln
ENST00000629496.2:c.1052G>A ENSP00000487224.1:p.Arg351Gln
ENST00000629785.2:c.1052G>A ENSP00000486516.1:p.Arg351Gln
ENST00000630255.2:c.1052G>A ENSP00000486720.1:p.Arg351Gln
ENST00000630370.2:c.1052G>A ENSP00000487062.1:p.Arg351Gln
ENST00000630858.2:c.1052G>A ENSP00000486514.1:p.Arg351Gln
NM_001193416.2:c.1052G>A NP_001180345.1:p.Arg351Gln
NM_001193417.2:c.1004G>A NP_001180346.1:p.Arg335Gln
NM_001356.4:c.1052G>A NP_001347.3:p.Arg351Gln
NR_126093.1:n.1997G>A
XM_011543892.1:c.1052G>A XP_011542194.1:p.Arg351Gln
NM_001363819.1:c.494G>A NP_001350748.1:p.Arg165Gln
XM_011543892.2:c.1052G>A XP_011542194.1:p.Arg351Gln
XM_017029313.1:c.494G>A XP_016884802.1:p.Arg165Gln
NM_001193416.3:c.1052G>A NP_001180345.1:p.Arg351Gln
NM_001193417.3:c.1004G>A NP_001180346.1:p.Arg335Gln
NM_001356.5:c.1052G>A MANE Select NP_001347.3:p.Arg351Gln