Canonical Allele Identifier: CA412771087

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 521573
• ClinVar RCV Id: RCV001007875 ; RCV003238786
• dbSNP Id: rs1555953548
• COSMIC: COSM216196
• MyVariant Identifiers: chrX:g.41203603C>T (hg19) ; chrX:g.41344350C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344350C>T , CM000685.2:g.41344350C>T	GRCh38
NC_000023.10:g.41203603C>T , CM000685.1:g.41203603C>T	GRCh37
NC_000023.9:g.41088547C>T	NCBI36
NG_012830.1:g.15953C>T
NG_012830.2:g.15953C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1108C>T	ENSP00000496052.2:p.Arg370Cys
ENST00000399959.7:c.973C>T	ENSP00000382840.3:p.Arg325Cys
ENST00000441189.4:c.877C>T	ENSP00000414281.3:p.Arg293Cys
ENST00000457138.7:c.928C>T	ENSP00000392494.2:p.Arg310Cys
ENST00000629496.3:c.976C>T	ENSP00000487224.1:p.Arg326Cys
ENST00000631641.2:n.1019C>T
ENST00000642161.1:n.3175C>T
ENST00000642322.1:c.418C>T	ENSP00000496052.1:p.Arg140Cys
ENST00000642424.1:c.418C>T	ENSP00000496356.1:p.Arg140Cys
ENST00000642589.1:n.4298C>T
ENST00000642597.1:n.1150C>T
ENST00000642687.1:n.1009C>T
ENST00000642722.1:n.1809C>T
ENST00000642763.1:n.1867C>T
ENST00000642793.1:c.*425C>T	ENSP00000493976.1:n.*425C>T
ENST00000642801.1:n.625C>T
ENST00000643820.1:n.252C>T
ENST00000643963.1:c.*258C>T	ENSP00000495264.1:n.*258C>T
ENST00000644073.1:c.934C>T	ENSP00000493475.1:p.Arg312Cys
ENST00000644074.1:c.973C>T	ENSP00000496663.1:p.Arg325Cys
ENST00000644109.1:c.973C>T	ENSP00000494952.1:p.Arg325Cys
ENST00000644307.1:n.1067C>T
ENST00000644513.1:c.976C>T	ENSP00000493819.1:p.Arg326Cys
ENST00000644677.1:c.859C>T	ENSP00000496524.1:p.Arg287Cys
ENST00000644876.2:c.976C>T MANE Select	ENSP00000494040.1:p.Arg326Cys
ENST00000644958.1:n.2637C>T
ENST00000645080.1:c.*2198C>T	ENSP00000494767.1:n.*2198C>T
ENST00000645120.1:n.2471C>T
ENST00000645338.1:n.1067C>T
ENST00000645380.1:n.2361C>T
ENST00000645561.1:n.2152C>T
ENST00000645574.1:n.3840C>T
ENST00000645589.1:c.976C>T	ENSP00000494588.1:p.Arg326Cys
ENST00000646093.1:n.160C>T
ENST00000646107.1:c.859C>T	ENSP00000494518.1:p.Arg287Cys
ENST00000646122.1:c.976C>T	ENSP00000496222.1:p.Arg326Cys
ENST00000646196.1:n.1945C>T
ENST00000646223.1:c.*969C>T	ENSP00000496043.1:n.*969C>T
ENST00000646319.1:c.976C>T	ENSP00000495377.1:p.Arg326Cys
ENST00000646390.1:n.3264C>T
ENST00000646627.1:c.418C>T	ENSP00000493795.1:p.Arg140Cys
ENST00000646679.1:c.418C>T	ENSP00000494887.1:p.Arg140Cys
ENST00000646822.1:n.2038C>T
ENST00000646940.1:n.1150C>T
ENST00000647286.1:n.1074C>T
ENST00000399959.6:c.976C>T	ENSP00000382840.2:p.Arg326Cys
ENST00000441189.3:c.340+1800C>T	ENSP00000414281.2:n.340+1800C>T
ENST00000457138.6:c.928C>T	ENSP00000392494.2:p.Arg310Cys
ENST00000478993.5:c.976C>T	ENSP00000478443.1:p.Arg326Cys
ENST00000542215.5:n.1024C>T
ENST00000625837.2:c.976C>T	ENSP00000486306.1:p.Arg326Cys
ENST00000626301.2:c.976C>T	ENSP00000486443.1:p.Arg326Cys
ENST00000629496.2:c.976C>T	ENSP00000487224.1:p.Arg326Cys
ENST00000629785.2:c.976C>T	ENSP00000486516.1:p.Arg326Cys
ENST00000630255.2:c.976C>T	ENSP00000486720.1:p.Arg326Cys
ENST00000630370.2:c.976C>T	ENSP00000487062.1:p.Arg326Cys
ENST00000630858.2:c.976C>T	ENSP00000486514.1:p.Arg326Cys
NM_001193416.2:c.976C>T	NP_001180345.1:p.Arg326Cys
NM_001193417.2:c.928C>T	NP_001180346.1:p.Arg310Cys
NM_001356.4:c.976C>T	NP_001347.3:p.Arg326Cys
NR_126093.1:n.1921C>T
XM_011543892.1:c.976C>T	XP_011542194.1:p.Arg326Cys
NM_001363819.1:c.418C>T	NP_001350748.1:p.Arg140Cys
XM_011543892.2:c.976C>T	XP_011542194.1:p.Arg326Cys
XM_017029313.1:c.418C>T	XP_016884802.1:p.Arg140Cys
NM_001193416.3:c.976C>T	NP_001180345.1:p.Arg326Cys
NM_001193417.3:c.928C>T	NP_001180346.1:p.Arg310Cys
NM_001356.5:c.976C>T MANE Select	NP_001347.3:p.Arg326Cys