Canonical Allele Identifier: CA412776726

Gene: DDX3X

Linked Data

• gnomAD v4: X-41346578-A-G
• MyVariant Identifiers: chrX:g.41205831A>G (hg19) ; chrX:g.41346578A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346578A>G , CM000685.2:g.41346578A>G	GRCh38
NC_000023.10:g.41205831A>G , CM000685.1:g.41205831A>G	GRCh37
NC_000023.9:g.41090775A>G	NCBI36
NG_012830.1:g.18181A>G
NG_012830.2:g.18181A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1703A>G	ENSP00000496052.2:p.Glu568Gly
ENST00000399959.7:c.1568A>G	ENSP00000382840.3:p.Glu523Gly
ENST00000441189.4:c.1472A>G	ENSP00000414281.3:p.Glu491Gly
ENST00000457138.7:c.1523A>G	ENSP00000392494.2:p.Glu508Gly
ENST00000611968.2:c.165A>G
ENST00000616050.3:c.319A>G
ENST00000629496.3:c.1571A>G	ENSP00000487224.1:p.Glu524Gly
ENST00000642161.1:n.3770A>G
ENST00000642322.1:c.1013A>G	ENSP00000496052.1:p.Glu338Gly
ENST00000642424.1:c.1013A>G	ENSP00000496356.1:p.Glu338Gly
ENST00000642589.1:n.4893A>G
ENST00000642597.1:n.1745A>G
ENST00000642687.1:n.1604A>G
ENST00000642722.1:n.2404A>G
ENST00000642763.1:n.2462A>G
ENST00000642793.1:c.*1020A>G	ENSP00000493976.1:n.*1020A>G
ENST00000642801.1:n.1220A>G
ENST00000643820.1:n.941A>G
ENST00000643963.1:c.*853A>G	ENSP00000495264.1:n.*853A>G
ENST00000644073.1:c.1529A>G	ENSP00000493475.1:p.Glu510Gly
ENST00000644074.1:c.1568A>G	ENSP00000496663.1:p.Glu523Gly
ENST00000644109.1:c.1733A>G	ENSP00000494952.1:p.Glu578Gly
ENST00000644307.1:n.1741A>G
ENST00000644513.1:c.1571A>G	ENSP00000493819.1:p.Glu524Gly
ENST00000644677.1:c.1454A>G	ENSP00000496524.1:p.Glu485Gly
ENST00000644876.2:c.1571A>G MANE Select	ENSP00000494040.1:p.Glu524Gly
ENST00000644958.1:n.3232A>G
ENST00000645080.1:c.*2793A>G	ENSP00000494767.1:n.*2793A>G
ENST00000645120.1:n.3066A>G
ENST00000645338.1:n.1741A>G
ENST00000645380.1:n.3035A>G
ENST00000645561.1:n.2747A>G
ENST00000645574.1:n.4435A>G
ENST00000645589.1:c.*70A>G	ENSP00000494588.1:n.*70A>G
ENST00000646107.1:c.1454A>G	ENSP00000494518.1:p.Glu485Gly
ENST00000646122.1:c.1571A>G	ENSP00000496222.1:p.Glu524Gly
ENST00000646196.1:n.2540A>G
ENST00000646223.1:c.*1564A>G	ENSP00000496043.1:n.*1564A>G
ENST00000646319.1:c.1571A>G	ENSP00000495377.1:p.Glu524Gly
ENST00000646390.1:n.3859A>G
ENST00000646627.1:c.1013A>G	ENSP00000493795.1:p.Glu338Gly
ENST00000646679.1:c.1013A>G	ENSP00000494887.1:p.Glu338Gly
ENST00000646822.1:n.2633A>G
ENST00000646940.1:n.1745A>G
ENST00000647286.1:n.1669A>G
ENST00000647477.1:n.310A>G
ENST00000399959.6:c.1571A>G	ENSP00000382840.2:p.Glu524Gly
ENST00000441189.3:c.341-1062A>G	ENSP00000414281.2:n.341-1062A>G
ENST00000457138.6:c.1523A>G	ENSP00000392494.2:p.Glu508Gly
ENST00000478993.5:c.1571A>G	ENSP00000478443.1:p.Glu524Gly
ENST00000611968.1:c.13A>G
ENST00000616050.2:c.124A>G
ENST00000625837.2:c.1571A>G	ENSP00000486306.1:p.Glu524Gly
ENST00000626301.2:c.1571A>G	ENSP00000486443.1:p.Glu524Gly
ENST00000629496.2:c.1571A>G	ENSP00000487224.1:p.Glu524Gly
ENST00000629785.2:c.1571A>G	ENSP00000486516.1:p.Glu524Gly
ENST00000630255.2:c.1571A>G	ENSP00000486720.1:p.Glu524Gly
ENST00000630370.2:c.1571A>G	ENSP00000487062.1:p.Glu524Gly
ENST00000630858.2:c.1571A>G	ENSP00000486514.1:p.Glu524Gly
NM_001193416.2:c.1571A>G	NP_001180345.1:p.Glu524Gly
NM_001193417.2:c.1523A>G	NP_001180346.1:p.Glu508Gly
NM_001356.4:c.1571A>G	NP_001347.3:p.Glu524Gly
NR_126093.1:n.2516A>G
XM_011543892.1:c.1571A>G	XP_011542194.1:p.Glu524Gly
NM_001363819.1:c.1013A>G	NP_001350748.1:p.Glu338Gly
XM_011543892.2:c.1571A>G	XP_011542194.1:p.Glu524Gly
XM_017029313.1:c.1013A>G	XP_016884802.1:p.Glu338Gly
NM_001193416.3:c.1571A>G	NP_001180345.1:p.Glu524Gly
NM_001193417.3:c.1523A>G	NP_001180346.1:p.Glu508Gly
NM_001356.5:c.1571A>G MANE Select	NP_001347.3:p.Glu524Gly