Canonical Allele Identifier: CA412776836

Gene: DDX3X

Linked Data

• dbSNP Id: rs2147359276
• COSMIC: COSM302041
• MyVariant Identifiers: chrX:g.41205843G>A (hg19) ; chrX:g.41346590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346590G>A , CM000685.2:g.41346590G>A	GRCh38
NC_000023.10:g.41205843G>A , CM000685.1:g.41205843G>A	GRCh37
NC_000023.9:g.41090787G>A	NCBI36
NG_012830.1:g.18193G>A
NG_012830.2:g.18193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1715G>A	ENSP00000496052.2:p.Arg572His
ENST00000399959.7:c.1580G>A	ENSP00000382840.3:p.Arg527His
ENST00000441189.4:c.1484G>A	ENSP00000414281.3:p.Arg495His
ENST00000457138.7:c.1535G>A	ENSP00000392494.2:p.Arg512His
ENST00000611968.2:c.177G>A
ENST00000616050.3:c.331G>A
ENST00000629496.3:c.1583G>A	ENSP00000487224.1:p.Arg528His
ENST00000642161.1:n.3782G>A
ENST00000642322.1:c.1025G>A	ENSP00000496052.1:p.Arg342His
ENST00000642424.1:c.1025G>A	ENSP00000496356.1:p.Arg342His
ENST00000642589.1:n.4905G>A
ENST00000642597.1:n.1757G>A
ENST00000642687.1:n.1616G>A
ENST00000642722.1:n.2416G>A
ENST00000642763.1:n.2474G>A
ENST00000642793.1:c.*1032G>A	ENSP00000493976.1:n.*1032G>A
ENST00000642801.1:n.1232G>A
ENST00000643820.1:n.953G>A
ENST00000643963.1:c.*865G>A	ENSP00000495264.1:n.*865G>A
ENST00000644073.1:c.1541G>A	ENSP00000493475.1:p.Arg514His
ENST00000644074.1:c.1580G>A	ENSP00000496663.1:p.Arg527His
ENST00000644109.1:c.1745G>A	ENSP00000494952.1:p.Arg582His
ENST00000644307.1:n.1753G>A
ENST00000644513.1:c.1583G>A	ENSP00000493819.1:p.Arg528His
ENST00000644677.1:c.1466G>A	ENSP00000496524.1:p.Arg489His
ENST00000644876.2:c.1583G>A MANE Select	ENSP00000494040.1:p.Arg528His
ENST00000644958.1:n.3244G>A
ENST00000645080.1:c.*2805G>A	ENSP00000494767.1:n.*2805G>A
ENST00000645120.1:n.3078G>A
ENST00000645338.1:n.1753G>A
ENST00000645380.1:n.3047G>A
ENST00000645561.1:n.2759G>A
ENST00000645574.1:n.4447G>A
ENST00000645589.1:c.*82G>A	ENSP00000494588.1:n.*82G>A
ENST00000646107.1:c.1466G>A	ENSP00000494518.1:p.Arg489His
ENST00000646122.1:c.1583G>A	ENSP00000496222.1:p.Arg528His
ENST00000646196.1:n.2552G>A
ENST00000646223.1:c.*1576G>A	ENSP00000496043.1:n.*1576G>A
ENST00000646319.1:c.1583G>A	ENSP00000495377.1:p.Arg528His
ENST00000646390.1:n.3871G>A
ENST00000646627.1:c.1025G>A	ENSP00000493795.1:p.Arg342His
ENST00000646679.1:c.1025G>A	ENSP00000494887.1:p.Arg342His
ENST00000646822.1:n.2645G>A
ENST00000646940.1:n.1757G>A
ENST00000647286.1:n.1681G>A
ENST00000647477.1:n.322G>A
ENST00000399959.6:c.1583G>A	ENSP00000382840.2:p.Arg528His
ENST00000441189.3:c.341-1050G>A	ENSP00000414281.2:n.341-1050G>A
ENST00000457138.6:c.1535G>A	ENSP00000392494.2:p.Arg512His
ENST00000478993.5:c.1583G>A	ENSP00000478443.1:p.Arg528His
ENST00000611968.1:c.25G>A
ENST00000616050.2:c.136G>A
ENST00000625837.2:c.1583G>A	ENSP00000486306.1:p.Arg528His
ENST00000626301.2:c.1583G>A	ENSP00000486443.1:p.Arg528His
ENST00000629496.2:c.1583G>A	ENSP00000487224.1:p.Arg528His
ENST00000629785.2:c.1583G>A	ENSP00000486516.1:p.Arg528His
ENST00000630255.2:c.1583G>A	ENSP00000486720.1:p.Arg528His
ENST00000630370.2:c.1583G>A	ENSP00000487062.1:p.Arg528His
ENST00000630858.2:c.1583G>A	ENSP00000486514.1:p.Arg528His
NM_001193416.2:c.1583G>A	NP_001180345.1:p.Arg528His
NM_001193417.2:c.1535G>A	NP_001180346.1:p.Arg512His
NM_001356.4:c.1583G>A	NP_001347.3:p.Arg528His
NR_126093.1:n.2528G>A
XM_011543892.1:c.1583G>A	XP_011542194.1:p.Arg528His
NM_001363819.1:c.1025G>A	NP_001350748.1:p.Arg342His
XM_011543892.2:c.1583G>A	XP_011542194.1:p.Arg528His
XM_017029313.1:c.1025G>A	XP_016884802.1:p.Arg342His
NM_001193416.3:c.1583G>A	NP_001180345.1:p.Arg528His
NM_001193417.3:c.1535G>A	NP_001180346.1:p.Arg512His
NM_001356.5:c.1583G>A MANE Select	NP_001347.3:p.Arg528His