Canonical Allele Identifier: CA412770619

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 452201
• ClinVar RCV Id: RCV001174975 ; RCV002314917 ; RCV003156102 ; RCV003419913
• dbSNP Id: rs1555953488
• gnomAD v4: X-41344248-C-T
• MyVariant Identifiers: chrX:g.41203501C>T (hg19) ; chrX:g.41344248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344248C>T , CM000685.2:g.41344248C>T	GRCh38
NC_000023.10:g.41203501C>T , CM000685.1:g.41203501C>T	GRCh37
NC_000023.9:g.41088445C>T	NCBI36
NG_012830.1:g.15851C>T
NG_012830.2:g.15851C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1006C>T	ENSP00000496052.2:p.Arg336Ter
ENST00000399959.7:c.871C>T	ENSP00000382840.3:p.Arg291Ter
ENST00000441189.4:c.775C>T	ENSP00000414281.3:p.Arg259Ter
ENST00000457138.7:c.826C>T	ENSP00000392494.2:p.Arg276Ter
ENST00000629496.3:c.874C>T	ENSP00000487224.1:p.Arg292Ter
ENST00000631641.2:n.917C>T
ENST00000642161.1:n.3073C>T
ENST00000642322.1:c.316C>T	ENSP00000496052.1:p.Arg106Ter
ENST00000642424.1:c.316C>T	ENSP00000496356.1:p.Arg106Ter
ENST00000642589.1:n.4196C>T
ENST00000642597.1:n.1048C>T
ENST00000642687.1:n.907C>T
ENST00000642722.1:n.1707C>T
ENST00000642763.1:n.1765C>T
ENST00000642793.1:c.*323C>T	ENSP00000493976.1:n.*323C>T
ENST00000642801.1:n.523C>T
ENST00000643820.1:n.150C>T
ENST00000643963.1:c.*156C>T	ENSP00000495264.1:n.*156C>T
ENST00000644073.1:c.832C>T	ENSP00000493475.1:p.Arg278Ter
ENST00000644074.1:c.871C>T	ENSP00000496663.1:p.Arg291Ter
ENST00000644109.1:c.871C>T	ENSP00000494952.1:p.Arg291Ter
ENST00000644307.1:n.965C>T
ENST00000644513.1:c.874C>T	ENSP00000493819.1:p.Arg292Ter
ENST00000644677.1:c.757C>T	ENSP00000496524.1:p.Arg253Ter
ENST00000644876.2:c.874C>T MANE Select	ENSP00000494040.1:p.Arg292Ter
ENST00000644958.1:n.2535C>T
ENST00000645080.1:c.*2096C>T	ENSP00000494767.1:n.*2096C>T
ENST00000645120.1:n.2369C>T
ENST00000645338.1:n.965C>T
ENST00000645380.1:n.2259C>T
ENST00000645561.1:n.2050C>T
ENST00000645574.1:n.3738C>T
ENST00000645589.1:c.874C>T	ENSP00000494588.1:p.Arg292Ter
ENST00000646093.1:n.58C>T
ENST00000646107.1:c.757C>T	ENSP00000494518.1:p.Arg253Ter
ENST00000646122.1:c.874C>T	ENSP00000496222.1:p.Arg292Ter
ENST00000646196.1:n.1843C>T
ENST00000646223.1:c.*867C>T	ENSP00000496043.1:n.*867C>T
ENST00000646319.1:c.874C>T	ENSP00000495377.1:p.Arg292Ter
ENST00000646390.1:n.3162C>T
ENST00000646627.1:c.316C>T	ENSP00000493795.1:p.Arg106Ter
ENST00000646679.1:c.316C>T	ENSP00000494887.1:p.Arg106Ter
ENST00000646822.1:n.1936C>T
ENST00000646940.1:n.1048C>T
ENST00000647286.1:n.972C>T
ENST00000399959.6:c.874C>T	ENSP00000382840.2:p.Arg292Ter
ENST00000441189.3:c.340+1698C>T	ENSP00000414281.2:n.340+1698C>T
ENST00000457138.6:c.826C>T	ENSP00000392494.2:p.Arg276Ter
ENST00000478993.5:c.874C>T	ENSP00000478443.1:p.Arg292Ter
ENST00000542215.5:n.922C>T
ENST00000625837.2:c.874C>T	ENSP00000486306.1:p.Arg292Ter
ENST00000626301.2:c.874C>T	ENSP00000486443.1:p.Arg292Ter
ENST00000629496.2:c.874C>T	ENSP00000487224.1:p.Arg292Ter
ENST00000629785.2:c.874C>T	ENSP00000486516.1:p.Arg292Ter
ENST00000630255.2:c.874C>T	ENSP00000486720.1:p.Arg292Ter
ENST00000630370.2:c.874C>T	ENSP00000487062.1:p.Arg292Ter
ENST00000630858.2:c.874C>T	ENSP00000486514.1:p.Arg292Ter
NM_001193416.2:c.874C>T	NP_001180345.1:p.Arg292Ter
NM_001193417.2:c.826C>T	NP_001180346.1:p.Arg276Ter
NM_001356.4:c.874C>T	NP_001347.3:p.Arg292Ter
NR_126093.1:n.1819C>T
XM_011543892.1:c.874C>T	XP_011542194.1:p.Arg292Ter
NM_001363819.1:c.316C>T	NP_001350748.1:p.Arg106Ter
XM_011543892.2:c.874C>T	XP_011542194.1:p.Arg292Ter
XM_017029313.1:c.316C>T	XP_016884802.1:p.Arg106Ter
NM_001193416.3:c.874C>T	NP_001180345.1:p.Arg292Ter
NM_001193417.3:c.826C>T	NP_001180346.1:p.Arg276Ter
NM_001356.5:c.874C>T MANE Select	NP_001347.3:p.Arg292Ter