Canonical Allele Identifier: CA10389377

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1289008
• ClinVar RCV Id: RCV001709455 ; RCV002539726 ; RCV004542090
• dbSNP Id: rs778806111
• ExAC: X:41200766 A / G
• gnomAD v2: X-41200766-A-G
• gnomAD v3: X-41341513-A-G
• gnomAD v4: X-41341513-A-G
• MyVariant Identifiers: chrX:g.41200766A>G (hg19) ; chrX:g.41341513A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41341513A>G , CM000685.2:g.41341513A>G	GRCh38
NC_000023.10:g.41200766A>G , CM000685.1:g.41200766A>G	GRCh37
NC_000023.9:g.41085710A>G	NCBI36
NG_012830.1:g.13116A>G
NG_012830.2:g.13116A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.313A>G	ENSP00000496052.2:p.Ser105Gly
ENST00000399959.7:c.178A>G	ENSP00000382840.3:p.Ser60Gly
ENST00000441189.4:c.181A>G	ENSP00000414281.3:p.Ser61Gly
ENST00000457138.7:c.133A>G	ENSP00000392494.2:p.Ser45Gly
ENST00000611546.2:n.487A>G
ENST00000615313.5:c.139A>G	ENSP00000496257.1:p.Ser47Gly
ENST00000622198.5:n.338A>G
ENST00000629496.3:c.181A>G	ENSP00000487224.1:p.Ser61Gly
ENST00000631641.2:n.224A>G
ENST00000642161.1:n.1502A>G
ENST00000642322.1:c.-378A>G	ENSP00000496052.1:n.-378A>G
ENST00000642424.1:c.-378A>G	ENSP00000496356.1:n.-378A>G
ENST00000642589.1:n.1571A>G
ENST00000642597.1:n.272A>G
ENST00000642624.1:n.71A>G
ENST00000642722.1:n.272A>G
ENST00000642763.1:n.194A>G
ENST00000642793.1:c.181A>G	ENSP00000493976.1:p.Ser61Gly
ENST00000643963.1:c.181A>G	ENSP00000495264.1:p.Ser61Gly
ENST00000644073.1:c.139A>G	ENSP00000493475.1:p.Ser47Gly
ENST00000644074.1:c.178A>G	ENSP00000496663.1:p.Ser60Gly
ENST00000644109.1:c.178A>G	ENSP00000494952.1:p.Ser60Gly
ENST00000644260.1:n.9A>G
ENST00000644307.1:n.272A>G
ENST00000644513.1:c.181A>G	ENSP00000493819.1:p.Ser61Gly
ENST00000644677.1:c.64A>G	ENSP00000496524.1:p.Ser22Gly
ENST00000644876.2:c.181A>G MANE Select	ENSP00000494040.1:p.Ser61Gly
ENST00000644958.1:n.1842A>G
ENST00000645080.1:c.*1403A>G	ENSP00000494767.1:n.*1403A>G
ENST00000645120.1:n.1676A>G
ENST00000645253.1:n.1604A>G
ENST00000645338.1:n.272A>G
ENST00000645380.1:n.1566A>G
ENST00000645561.1:n.272A>G
ENST00000645574.1:n.1492A>G
ENST00000645589.1:c.181A>G	ENSP00000494588.1:p.Ser61Gly
ENST00000645783.1:c.*1280A>G	ENSP00000494905.1:n.*1280A>G
ENST00000646107.1:c.64A>G	ENSP00000494518.1:p.Ser22Gly
ENST00000646122.1:c.181A>G	ENSP00000496222.1:p.Ser61Gly
ENST00000646196.1:n.272A>G
ENST00000646223.1:c.*174A>G	ENSP00000496043.1:n.*174A>G
ENST00000646319.1:c.181A>G	ENSP00000495377.1:p.Ser61Gly
ENST00000646390.1:n.1508A>G
ENST00000646627.1:c.-378A>G	ENSP00000493795.1:n.-378A>G
ENST00000646679.1:c.-378A>G	ENSP00000494887.1:n.-378A>G
ENST00000646822.1:n.272A>G
ENST00000646940.1:n.272A>G
ENST00000647219.1:n.166A>G
ENST00000399959.6:c.181A>G	ENSP00000382840.2:p.Ser61Gly
ENST00000441189.3:c.181A>G	ENSP00000414281.2:p.Ser61Gly
ENST00000457138.6:c.133A>G	ENSP00000392494.2:p.Ser45Gly
ENST00000478993.5:c.181A>G	ENSP00000478443.1:p.Ser61Gly
ENST00000542215.5:n.315A>G
ENST00000611546.1:n.313A>G
ENST00000615313.4:n.417A>G
ENST00000615742.4:c.181A>G	ENSP00000480647.1:p.Ser61Gly
ENST00000622198.4:n.282A>G
ENST00000625837.2:c.181A>G	ENSP00000486306.1:p.Ser61Gly
ENST00000626301.2:c.181A>G	ENSP00000486443.1:p.Ser61Gly
ENST00000629496.2:c.181A>G	ENSP00000487224.1:p.Ser61Gly
ENST00000629785.2:c.181A>G	ENSP00000486516.1:p.Ser61Gly
ENST00000630255.2:c.181A>G	ENSP00000486720.1:p.Ser61Gly
ENST00000630370.2:c.181A>G	ENSP00000487062.1:p.Ser61Gly
ENST00000630858.2:c.181A>G	ENSP00000486514.1:p.Ser61Gly
ENST00000631641.1:c.133A>G	ENSP00000488854.1:p.Ser45Gly
NM_001193416.2:c.181A>G	NP_001180345.1:p.Ser61Gly
NM_001193417.2:c.133A>G	NP_001180346.1:p.Ser45Gly
NM_001356.4:c.181A>G	NP_001347.3:p.Ser61Gly
NR_126093.1:n.1126A>G
XM_011543892.1:c.181A>G	XP_011542194.1:p.Ser61Gly
NM_001363819.1:c.-378A>G	NP_001350748.1:n.-378A>G
XM_011543892.2:c.181A>G	XP_011542194.1:p.Ser61Gly
XM_017029313.1:c.-378A>G	XP_016884802.1:n.-378A>G
NM_001193416.3:c.181A>G	NP_001180345.1:p.Ser61Gly
NM_001193417.3:c.133A>G	NP_001180346.1:p.Ser45Gly
NM_001356.5:c.181A>G MANE Select	NP_001347.3:p.Ser61Gly