Canonical Allele Identifier: CA412771827

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1198267
• ClinVar RCV Id: RCV001562361
• dbSNP Id: rs2147356620
• MyVariant Identifiers: chrX:g.41204705A>G (hg19) ; chrX:g.41345452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345452A>G , CM000685.2:g.41345452A>G	GRCh38
NC_000023.10:g.41204705A>G , CM000685.1:g.41204705A>G	GRCh37
NC_000023.9:g.41089649A>G	NCBI36
NG_012830.1:g.17055A>G
NG_012830.2:g.17055A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1351A>G	ENSP00000496052.2:p.Arg451Gly
ENST00000399959.7:c.1216A>G	ENSP00000382840.3:p.Arg406Gly
ENST00000441189.4:c.1120A>G	ENSP00000414281.3:p.Arg374Gly
ENST00000457138.7:c.1171A>G	ENSP00000392494.2:p.Arg391Gly
ENST00000629496.3:c.1219A>G	ENSP00000487224.1:p.Arg407Gly
ENST00000642161.1:n.3418A>G
ENST00000642322.1:c.661A>G	ENSP00000496052.1:p.Arg221Gly
ENST00000642424.1:c.661A>G	ENSP00000496356.1:p.Arg221Gly
ENST00000642589.1:n.4541A>G
ENST00000642597.1:n.1393A>G
ENST00000642687.1:n.1252A>G
ENST00000642722.1:n.2052A>G
ENST00000642763.1:n.2110A>G
ENST00000642793.1:c.*668A>G	ENSP00000493976.1:n.*668A>G
ENST00000642801.1:n.868A>G
ENST00000643820.1:n.495A>G
ENST00000643963.1:c.*501A>G	ENSP00000495264.1:n.*501A>G
ENST00000644073.1:c.1177A>G	ENSP00000493475.1:p.Arg393Gly
ENST00000644074.1:c.1216A>G	ENSP00000496663.1:p.Arg406Gly
ENST00000644109.1:c.1381A>G	ENSP00000494952.1:p.Arg461Gly
ENST00000644307.1:n.1389A>G
ENST00000644513.1:c.1219A>G	ENSP00000493819.1:p.Arg407Gly
ENST00000644677.1:c.1102A>G	ENSP00000496524.1:p.Arg368Gly
ENST00000644876.2:c.1219A>G MANE Select	ENSP00000494040.1:p.Arg407Gly
ENST00000644958.1:n.2880A>G
ENST00000645080.1:c.*2441A>G	ENSP00000494767.1:n.*2441A>G
ENST00000645120.1:n.2714A>G
ENST00000645338.1:n.1389A>G
ENST00000645380.1:n.2683A>G
ENST00000645561.1:n.2395A>G
ENST00000645574.1:n.4083A>G
ENST00000645589.1:c.1219A>G	ENSP00000494588.1:p.Arg407Gly
ENST00000646093.1:n.403A>G
ENST00000646107.1:c.1102A>G	ENSP00000494518.1:p.Arg368Gly
ENST00000646122.1:c.1219A>G	ENSP00000496222.1:p.Arg407Gly
ENST00000646196.1:n.2188A>G
ENST00000646223.1:c.*1212A>G	ENSP00000496043.1:n.*1212A>G
ENST00000646319.1:c.1219A>G	ENSP00000495377.1:p.Arg407Gly
ENST00000646390.1:n.3507A>G
ENST00000646627.1:c.661A>G	ENSP00000493795.1:p.Arg221Gly
ENST00000646679.1:c.661A>G	ENSP00000494887.1:p.Arg221Gly
ENST00000646822.1:n.2281A>G
ENST00000646940.1:n.1393A>G
ENST00000647286.1:n.1317A>G
ENST00000399959.6:c.1219A>G	ENSP00000382840.2:p.Arg407Gly
ENST00000441189.3:c.341-2188A>G	ENSP00000414281.2:n.341-2188A>G
ENST00000457138.6:c.1171A>G	ENSP00000392494.2:p.Arg391Gly
ENST00000478993.5:c.1219A>G	ENSP00000478443.1:p.Arg407Gly
ENST00000542215.5:n.1267A>G
ENST00000625837.2:c.1219A>G	ENSP00000486306.1:p.Arg407Gly
ENST00000626301.2:c.1219A>G	ENSP00000486443.1:p.Arg407Gly
ENST00000629496.2:c.1219A>G	ENSP00000487224.1:p.Arg407Gly
ENST00000629785.2:c.1219A>G	ENSP00000486516.1:p.Arg407Gly
ENST00000630255.2:c.1219A>G	ENSP00000486720.1:p.Arg407Gly
ENST00000630370.2:c.1219A>G	ENSP00000487062.1:p.Arg407Gly
ENST00000630858.2:c.1219A>G	ENSP00000486514.1:p.Arg407Gly
NM_001193416.2:c.1219A>G	NP_001180345.1:p.Arg407Gly
NM_001193417.2:c.1171A>G	NP_001180346.1:p.Arg391Gly
NM_001356.4:c.1219A>G	NP_001347.3:p.Arg407Gly
NR_126093.1:n.2164A>G
XM_011543892.1:c.1219A>G	XP_011542194.1:p.Arg407Gly
NM_001363819.1:c.661A>G	NP_001350748.1:p.Arg221Gly
XM_011543892.2:c.1219A>G	XP_011542194.1:p.Arg407Gly
XM_017029313.1:c.661A>G	XP_016884802.1:p.Arg221Gly
NM_001193416.3:c.1219A>G	NP_001180345.1:p.Arg407Gly
NM_001193417.3:c.1171A>G	NP_001180346.1:p.Arg391Gly
NM_001356.5:c.1219A>G MANE Select	NP_001347.3:p.Arg407Gly