Canonical Allele Identifier: CA412771264

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2663764
• ClinVar RCV Id: RCV003883998
• MyVariant Identifiers: chrX:g.41204452G>A (hg19) ; chrX:g.41345199G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345199G>A , CM000685.2:g.41345199G>A	GRCh38
NC_000023.10:g.41204452G>A , CM000685.1:g.41204452G>A	GRCh37
NC_000023.9:g.41089396G>A	NCBI36
NG_012830.1:g.16802G>A
NG_012830.2:g.16802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1177G>A	ENSP00000496052.2:p.Ala393Thr
ENST00000399959.7:c.1042G>A	ENSP00000382840.3:p.Ala348Thr
ENST00000441189.4:c.946G>A	ENSP00000414281.3:p.Ala316Thr
ENST00000457138.7:c.997G>A	ENSP00000392494.2:p.Ala333Thr
ENST00000629496.3:c.1045G>A	ENSP00000487224.1:p.Ala349Thr
ENST00000642161.1:n.3244G>A
ENST00000642322.1:c.487G>A	ENSP00000496052.1:p.Ala163Thr
ENST00000642424.1:c.487G>A	ENSP00000496356.1:p.Ala163Thr
ENST00000642589.1:n.4367G>A
ENST00000642597.1:n.1219G>A
ENST00000642687.1:n.1078G>A
ENST00000642722.1:n.1878G>A
ENST00000642763.1:n.1936G>A
ENST00000642793.1:c.*494G>A	ENSP00000493976.1:n.*494G>A
ENST00000642801.1:n.694G>A
ENST00000643820.1:n.321G>A
ENST00000643963.1:c.*327G>A	ENSP00000495264.1:n.*327G>A
ENST00000644073.1:c.1003G>A	ENSP00000493475.1:p.Ala335Thr
ENST00000644074.1:c.1042G>A	ENSP00000496663.1:p.Ala348Thr
ENST00000644109.1:c.1207G>A	ENSP00000494952.1:p.Ala403Thr
ENST00000644307.1:n.1136G>A
ENST00000644513.1:c.1045G>A	ENSP00000493819.1:p.Ala349Thr
ENST00000644677.1:c.928G>A	ENSP00000496524.1:p.Ala310Thr
ENST00000644876.2:c.1045G>A MANE Select	ENSP00000494040.1:p.Ala349Thr
ENST00000644958.1:n.2706G>A
ENST00000645080.1:c.*2267G>A	ENSP00000494767.1:n.*2267G>A
ENST00000645120.1:n.2540G>A
ENST00000645338.1:n.1136G>A
ENST00000645380.1:n.2430G>A
ENST00000645561.1:n.2221G>A
ENST00000645574.1:n.3909G>A
ENST00000645589.1:c.1045G>A	ENSP00000494588.1:p.Ala349Thr
ENST00000646093.1:n.229G>A
ENST00000646107.1:c.928G>A	ENSP00000494518.1:p.Ala310Thr
ENST00000646122.1:c.1045G>A	ENSP00000496222.1:p.Ala349Thr
ENST00000646196.1:n.2014G>A
ENST00000646223.1:c.*1038G>A	ENSP00000496043.1:n.*1038G>A
ENST00000646319.1:c.1045G>A	ENSP00000495377.1:p.Ala349Thr
ENST00000646390.1:n.3333G>A
ENST00000646627.1:c.487G>A	ENSP00000493795.1:p.Ala163Thr
ENST00000646679.1:c.487G>A	ENSP00000494887.1:p.Ala163Thr
ENST00000646822.1:n.2107G>A
ENST00000646940.1:n.1219G>A
ENST00000647286.1:n.1143G>A
ENST00000399959.6:c.1045G>A	ENSP00000382840.2:p.Ala349Thr
ENST00000441189.3:c.341-2441G>A	ENSP00000414281.2:n.341-2441G>A
ENST00000457138.6:c.997G>A	ENSP00000392494.2:p.Ala333Thr
ENST00000478993.5:c.1045G>A	ENSP00000478443.1:p.Ala349Thr
ENST00000542215.5:n.1093G>A
ENST00000625837.2:c.1045G>A	ENSP00000486306.1:p.Ala349Thr
ENST00000626301.2:c.1045G>A	ENSP00000486443.1:p.Ala349Thr
ENST00000629496.2:c.1045G>A	ENSP00000487224.1:p.Ala349Thr
ENST00000629785.2:c.1045G>A	ENSP00000486516.1:p.Ala349Thr
ENST00000630255.2:c.1045G>A	ENSP00000486720.1:p.Ala349Thr
ENST00000630370.2:c.1045G>A	ENSP00000487062.1:p.Ala349Thr
ENST00000630858.2:c.1045G>A	ENSP00000486514.1:p.Ala349Thr
NM_001193416.2:c.1045G>A	NP_001180345.1:p.Ala349Thr
NM_001193417.2:c.997G>A	NP_001180346.1:p.Ala333Thr
NM_001356.4:c.1045G>A	NP_001347.3:p.Ala349Thr
NR_126093.1:n.1990G>A
XM_011543892.1:c.1045G>A	XP_011542194.1:p.Ala349Thr
NM_001363819.1:c.487G>A	NP_001350748.1:p.Ala163Thr
XM_011543892.2:c.1045G>A	XP_011542194.1:p.Ala349Thr
XM_017029313.1:c.487G>A	XP_016884802.1:p.Ala163Thr
NM_001193416.3:c.1045G>A	NP_001180345.1:p.Ala349Thr
NM_001193417.3:c.997G>A	NP_001180346.1:p.Ala333Thr
NM_001356.5:c.1045G>A MANE Select	NP_001347.3:p.Ala349Thr