Canonical Allele Identifier: CA412776975

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 522795
• ClinVar RCV Id: RCV000625959 ; RCV002533147
• dbSNP Id: rs1555954284
• COSMIC: COSM3765007
• MyVariant Identifiers: chrX:g.41205860C>T (hg19) ; chrX:g.41346607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346607C>T , CM000685.2:g.41346607C>T	GRCh38
NC_000023.10:g.41205860C>T , CM000685.1:g.41205860C>T	GRCh37
NC_000023.9:g.41090804C>T	NCBI36
NG_012830.1:g.18210C>T
NG_012830.2:g.18210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1732C>T	ENSP00000496052.2:p.Arg578Cys
ENST00000399959.7:c.1597C>T	ENSP00000382840.3:p.Arg533Cys
ENST00000441189.4:c.1501C>T	ENSP00000414281.3:p.Arg501Cys
ENST00000457138.7:c.1552C>T	ENSP00000392494.2:p.Arg518Cys
ENST00000611968.2:c.194C>T
ENST00000616050.3:c.348C>T
ENST00000629496.3:c.1600C>T	ENSP00000487224.1:p.Arg534Cys
ENST00000642161.1:n.3799C>T
ENST00000642322.1:c.1042C>T	ENSP00000496052.1:p.Arg348Cys
ENST00000642424.1:c.1042C>T	ENSP00000496356.1:p.Arg348Cys
ENST00000642589.1:n.4922C>T
ENST00000642597.1:n.1774C>T
ENST00000642687.1:n.1633C>T
ENST00000642722.1:n.2433C>T
ENST00000642763.1:n.2491C>T
ENST00000642793.1:c.*1049C>T	ENSP00000493976.1:n.*1049C>T
ENST00000642801.1:n.1249C>T
ENST00000643820.1:n.970C>T
ENST00000643963.1:c.*882C>T	ENSP00000495264.1:n.*882C>T
ENST00000644073.1:c.1558C>T	ENSP00000493475.1:p.Arg520Cys
ENST00000644074.1:c.1597C>T	ENSP00000496663.1:p.Arg533Cys
ENST00000644109.1:c.1762C>T	ENSP00000494952.1:p.Arg588Cys
ENST00000644307.1:n.1770C>T
ENST00000644513.1:c.1600C>T	ENSP00000493819.1:p.Arg534Cys
ENST00000644677.1:c.1483C>T	ENSP00000496524.1:p.Arg495Cys
ENST00000644876.2:c.1600C>T MANE Select	ENSP00000494040.1:p.Arg534Cys
ENST00000644958.1:n.3261C>T
ENST00000645080.1:c.*2822C>T	ENSP00000494767.1:n.*2822C>T
ENST00000645120.1:n.3095C>T
ENST00000645338.1:n.1770C>T
ENST00000645380.1:n.3064C>T
ENST00000645561.1:n.2776C>T
ENST00000645574.1:n.4464C>T
ENST00000645589.1:c.*99C>T	ENSP00000494588.1:n.*99C>T
ENST00000646107.1:c.1483C>T	ENSP00000494518.1:p.Arg495Cys
ENST00000646122.1:c.1600C>T	ENSP00000496222.1:p.Arg534Cys
ENST00000646196.1:n.2569C>T
ENST00000646223.1:c.*1593C>T	ENSP00000496043.1:n.*1593C>T
ENST00000646319.1:c.1600C>T	ENSP00000495377.1:p.Arg534Cys
ENST00000646390.1:n.3888C>T
ENST00000646627.1:c.1042C>T	ENSP00000493795.1:p.Arg348Cys
ENST00000646679.1:c.1042C>T	ENSP00000494887.1:p.Arg348Cys
ENST00000646822.1:n.2662C>T
ENST00000646940.1:n.1774C>T
ENST00000647286.1:n.1698C>T
ENST00000647477.1:n.339C>T
ENST00000399959.6:c.1600C>T	ENSP00000382840.2:p.Arg534Cys
ENST00000441189.3:c.341-1033C>T	ENSP00000414281.2:n.341-1033C>T
ENST00000457138.6:c.1552C>T	ENSP00000392494.2:p.Arg518Cys
ENST00000478993.5:c.1600C>T	ENSP00000478443.1:p.Arg534Cys
ENST00000611968.1:c.42C>T
ENST00000616050.2:c.153C>T
ENST00000625837.2:c.1600C>T	ENSP00000486306.1:p.Arg534Cys
ENST00000626301.2:c.1600C>T	ENSP00000486443.1:p.Arg534Cys
ENST00000629496.2:c.1600C>T	ENSP00000487224.1:p.Arg534Cys
ENST00000629785.2:c.1600C>T	ENSP00000486516.1:p.Arg534Cys
ENST00000630255.2:c.1600C>T	ENSP00000486720.1:p.Arg534Cys
ENST00000630370.2:c.1600C>T	ENSP00000487062.1:p.Arg534Cys
ENST00000630858.2:c.1600C>T	ENSP00000486514.1:p.Arg534Cys
NM_001193416.2:c.1600C>T	NP_001180345.1:p.Arg534Cys
NM_001193417.2:c.1552C>T	NP_001180346.1:p.Arg518Cys
NM_001356.4:c.1600C>T	NP_001347.3:p.Arg534Cys
NR_126093.1:n.2545C>T
XM_011543892.1:c.1600C>T	XP_011542194.1:p.Arg534Cys
NM_001363819.1:c.1042C>T	NP_001350748.1:p.Arg348Cys
XM_011543892.2:c.1600C>T	XP_011542194.1:p.Arg534Cys
XM_017029313.1:c.1042C>T	XP_016884802.1:p.Arg348Cys
NM_001193416.3:c.1600C>T	NP_001180345.1:p.Arg534Cys
NM_001193417.3:c.1552C>T	NP_001180346.1:p.Arg518Cys
NM_001356.5:c.1600C>T MANE Select	NP_001347.3:p.Arg534Cys