Canonical Allele Identifier: CA412777050

Gene: DDX3X

Linked Data

• gnomAD v4: X-41346619-C-A
• MyVariant Identifiers: chrX:g.41205872C>A (hg19) ; chrX:g.41346619C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346619C>A , CM000685.2:g.41346619C>A	GRCh38
NC_000023.10:g.41205872C>A , CM000685.1:g.41205872C>A	GRCh37
NC_000023.9:g.41090816C>A	NCBI36
NG_012830.1:g.18222C>A
NG_012830.2:g.18222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1744C>A	ENSP00000496052.2:p.Leu582Ile
ENST00000399959.7:c.1609C>A	ENSP00000382840.3:p.Leu537Ile
ENST00000441189.4:c.1513C>A	ENSP00000414281.3:p.Leu505Ile
ENST00000457138.7:c.1564C>A	ENSP00000392494.2:p.Leu522Ile
ENST00000611968.2:c.206C>A
ENST00000616050.3:c.360C>A
ENST00000629496.3:c.1612C>A	ENSP00000487224.1:p.Leu538Ile
ENST00000642161.1:n.3811C>A
ENST00000642322.1:c.1054C>A	ENSP00000496052.1:p.Leu352Ile
ENST00000642424.1:c.1054C>A	ENSP00000496356.1:p.Leu352Ile
ENST00000642589.1:n.4934C>A
ENST00000642597.1:n.1786C>A
ENST00000642687.1:n.1645C>A
ENST00000642722.1:n.2445C>A
ENST00000642763.1:n.2503C>A
ENST00000642793.1:c.*1061C>A	ENSP00000493976.1:n.*1061C>A
ENST00000642801.1:n.1261C>A
ENST00000643820.1:n.982C>A
ENST00000643963.1:c.*894C>A	ENSP00000495264.1:n.*894C>A
ENST00000644073.1:c.1570C>A	ENSP00000493475.1:p.Leu524Ile
ENST00000644074.1:c.1609C>A	ENSP00000496663.1:p.Leu537Ile
ENST00000644109.1:c.1774C>A	ENSP00000494952.1:p.Leu592Ile
ENST00000644307.1:n.1782C>A
ENST00000644513.1:c.1612C>A	ENSP00000493819.1:p.Leu538Ile
ENST00000644677.1:c.1495C>A	ENSP00000496524.1:p.Leu499Ile
ENST00000644876.2:c.1612C>A MANE Select	ENSP00000494040.1:p.Leu538Ile
ENST00000644958.1:n.3273C>A
ENST00000645080.1:c.*2834C>A	ENSP00000494767.1:n.*2834C>A
ENST00000645120.1:n.3107C>A
ENST00000645338.1:n.1782C>A
ENST00000645380.1:n.3076C>A
ENST00000645561.1:n.2788C>A
ENST00000645574.1:n.4476C>A
ENST00000645589.1:c.*111C>A	ENSP00000494588.1:n.*111C>A
ENST00000646107.1:c.1495C>A	ENSP00000494518.1:p.Leu499Ile
ENST00000646122.1:c.1612C>A	ENSP00000496222.1:p.Leu538Ile
ENST00000646196.1:n.2581C>A
ENST00000646223.1:c.*1605C>A	ENSP00000496043.1:n.*1605C>A
ENST00000646319.1:c.1612C>A	ENSP00000495377.1:p.Leu538Ile
ENST00000646390.1:n.3900C>A
ENST00000646627.1:c.1054C>A	ENSP00000493795.1:p.Leu352Ile
ENST00000646679.1:c.1054C>A	ENSP00000494887.1:p.Leu352Ile
ENST00000646822.1:n.2674C>A
ENST00000646940.1:n.1786C>A
ENST00000647286.1:n.1710C>A
ENST00000647477.1:n.351C>A
ENST00000399959.6:c.1612C>A	ENSP00000382840.2:p.Leu538Ile
ENST00000441189.3:c.341-1021C>A	ENSP00000414281.2:n.341-1021C>A
ENST00000457138.6:c.1564C>A	ENSP00000392494.2:p.Leu522Ile
ENST00000478993.5:c.1612C>A	ENSP00000478443.1:p.Leu538Ile
ENST00000611968.1:c.54C>A
ENST00000616050.2:c.165C>A
ENST00000625837.2:c.1612C>A	ENSP00000486306.1:p.Leu538Ile
ENST00000626301.2:c.1612C>A	ENSP00000486443.1:p.Leu538Ile
ENST00000629496.2:c.1612C>A	ENSP00000487224.1:p.Leu538Ile
ENST00000629785.2:c.1612C>A	ENSP00000486516.1:p.Leu538Ile
ENST00000630255.2:c.1612C>A	ENSP00000486720.1:p.Leu538Ile
ENST00000630370.2:c.1612C>A	ENSP00000487062.1:p.Leu538Ile
ENST00000630858.2:c.1612C>A	ENSP00000486514.1:p.Leu538Ile
NM_001193416.2:c.1612C>A	NP_001180345.1:p.Leu538Ile
NM_001193417.2:c.1564C>A	NP_001180346.1:p.Leu522Ile
NM_001356.4:c.1612C>A	NP_001347.3:p.Leu538Ile
NR_126093.1:n.2557C>A
XM_011543892.1:c.1612C>A	XP_011542194.1:p.Leu538Ile
NM_001363819.1:c.1054C>A	NP_001350748.1:p.Leu352Ile
XM_011543892.2:c.1612C>A	XP_011542194.1:p.Leu538Ile
XM_017029313.1:c.1054C>A	XP_016884802.1:p.Leu352Ile
NM_001193416.3:c.1612C>A	NP_001180345.1:p.Leu538Ile
NM_001193417.3:c.1564C>A	NP_001180346.1:p.Leu522Ile
NM_001356.5:c.1612C>A MANE Select	NP_001347.3:p.Leu538Ile