Canonical Allele Identifier: CA358846

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 208548
• ClinVar RCV Id: RCV000190553
• dbSNP Id: rs869320681
• MyVariant Identifiers: chrX:g.41203500C>A (hg19) ; chrX:g.41344247C>A (hg38)
• PubMed: PMID:26235985

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344247C>A , CM000685.2:g.41344247C>A	GRCh38
NC_000023.10:g.41203500C>A , CM000685.1:g.41203500C>A	GRCh37
NC_000023.9:g.41088444C>A	NCBI36
NG_012830.1:g.15850C>A
NG_012830.2:g.15850C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1005C>A	ENSP00000496052.2:p.Tyr335Ter
ENST00000399959.7:c.870C>A	ENSP00000382840.3:p.Tyr290Ter
ENST00000441189.4:c.774C>A	ENSP00000414281.3:p.Tyr258Ter
ENST00000457138.7:c.825C>A	ENSP00000392494.2:p.Tyr275Ter
ENST00000629496.3:c.873C>A	ENSP00000487224.1:p.Tyr291Ter
ENST00000631641.2:n.916C>A
ENST00000642161.1:n.3072C>A
ENST00000642322.1:c.315C>A	ENSP00000496052.1:p.Tyr105Ter
ENST00000642424.1:c.315C>A	ENSP00000496356.1:p.Tyr105Ter
ENST00000642589.1:n.4195C>A
ENST00000642597.1:n.1047C>A
ENST00000642687.1:n.906C>A
ENST00000642722.1:n.1706C>A
ENST00000642763.1:n.1764C>A
ENST00000642793.1:c.*322C>A	ENSP00000493976.1:n.*322C>A
ENST00000642801.1:n.522C>A
ENST00000643820.1:n.149C>A
ENST00000643963.1:c.*155C>A	ENSP00000495264.1:n.*155C>A
ENST00000644073.1:c.831C>A	ENSP00000493475.1:p.Tyr277Ter
ENST00000644074.1:c.870C>A	ENSP00000496663.1:p.Tyr290Ter
ENST00000644109.1:c.870C>A	ENSP00000494952.1:p.Tyr290Ter
ENST00000644307.1:n.964C>A
ENST00000644513.1:c.873C>A	ENSP00000493819.1:p.Tyr291Ter
ENST00000644677.1:c.756C>A	ENSP00000496524.1:p.Tyr252Ter
ENST00000644876.2:c.873C>A MANE Select	ENSP00000494040.1:p.Tyr291Ter
ENST00000644958.1:n.2534C>A
ENST00000645080.1:c.*2095C>A	ENSP00000494767.1:n.*2095C>A
ENST00000645120.1:n.2368C>A
ENST00000645338.1:n.964C>A
ENST00000645380.1:n.2258C>A
ENST00000645561.1:n.2049C>A
ENST00000645574.1:n.3737C>A
ENST00000645589.1:c.873C>A	ENSP00000494588.1:p.Tyr291Ter
ENST00000646093.1:n.57C>A
ENST00000646107.1:c.756C>A	ENSP00000494518.1:p.Tyr252Ter
ENST00000646122.1:c.873C>A	ENSP00000496222.1:p.Tyr291Ter
ENST00000646196.1:n.1842C>A
ENST00000646223.1:c.*866C>A	ENSP00000496043.1:n.*866C>A
ENST00000646319.1:c.873C>A	ENSP00000495377.1:p.Tyr291Ter
ENST00000646390.1:n.3161C>A
ENST00000646627.1:c.315C>A	ENSP00000493795.1:p.Tyr105Ter
ENST00000646679.1:c.315C>A	ENSP00000494887.1:p.Tyr105Ter
ENST00000646822.1:n.1935C>A
ENST00000646940.1:n.1047C>A
ENST00000647286.1:n.971C>A
ENST00000399959.6:c.873C>A	ENSP00000382840.2:p.Tyr291Ter
ENST00000441189.3:c.340+1697C>A	ENSP00000414281.2:n.340+1697C>A
ENST00000457138.6:c.825C>A	ENSP00000392494.2:p.Tyr275Ter
ENST00000478993.5:c.873C>A	ENSP00000478443.1:p.Tyr291Ter
ENST00000542215.5:n.921C>A
ENST00000625837.2:c.873C>A	ENSP00000486306.1:p.Tyr291Ter
ENST00000626301.2:c.873C>A	ENSP00000486443.1:p.Tyr291Ter
ENST00000629496.2:c.873C>A	ENSP00000487224.1:p.Tyr291Ter
ENST00000629785.2:c.873C>A	ENSP00000486516.1:p.Tyr291Ter
ENST00000630255.2:c.873C>A	ENSP00000486720.1:p.Tyr291Ter
ENST00000630370.2:c.873C>A	ENSP00000487062.1:p.Tyr291Ter
ENST00000630858.2:c.873C>A	ENSP00000486514.1:p.Tyr291Ter
NM_001193416.2:c.873C>A	NP_001180345.1:p.Tyr291Ter
NM_001193417.2:c.825C>A	NP_001180346.1:p.Tyr275Ter
NM_001356.4:c.873C>A	NP_001347.3:p.Tyr291Ter
NR_126093.1:n.1818C>A
XM_011543892.1:c.873C>A	XP_011542194.1:p.Tyr291Ter
NM_001363819.1:c.315C>A	NP_001350748.1:p.Tyr105Ter
XM_011543892.2:c.873C>A	XP_011542194.1:p.Tyr291Ter
XM_017029313.1:c.315C>A	XP_016884802.1:p.Tyr105Ter
NM_001193416.3:c.873C>A	NP_001180345.1:p.Tyr291Ter
NM_001193417.3:c.825C>A	NP_001180346.1:p.Tyr275Ter
NM_001356.5:c.873C>A MANE Select	NP_001347.3:p.Tyr291Ter