Canonical Allele Identifier: CA412771721

Gene: DDX3X

Linked Data

• COSMIC: COSM4676823
• MyVariant Identifiers: chrX:g.41204681G>T (hg19) ; chrX:g.41345428G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345428G>T , CM000685.2:g.41345428G>T	GRCh38
NC_000023.10:g.41204681G>T , CM000685.1:g.41204681G>T	GRCh37
NC_000023.9:g.41089625G>T	NCBI36
NG_012830.1:g.17031G>T
NG_012830.2:g.17031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1327G>T	ENSP00000496052.2:p.Glu443Ter
ENST00000399959.7:c.1192G>T	ENSP00000382840.3:p.Glu398Ter
ENST00000441189.4:c.1096G>T	ENSP00000414281.3:p.Glu366Ter
ENST00000457138.7:c.1147G>T	ENSP00000392494.2:p.Glu383Ter
ENST00000629496.3:c.1195G>T	ENSP00000487224.1:p.Glu399Ter
ENST00000642161.1:n.3394G>T
ENST00000642322.1:c.637G>T	ENSP00000496052.1:p.Glu213Ter
ENST00000642424.1:c.637G>T	ENSP00000496356.1:p.Glu213Ter
ENST00000642589.1:n.4517G>T
ENST00000642597.1:n.1369G>T
ENST00000642687.1:n.1228G>T
ENST00000642722.1:n.2028G>T
ENST00000642763.1:n.2086G>T
ENST00000642793.1:c.*644G>T	ENSP00000493976.1:n.*644G>T
ENST00000642801.1:n.844G>T
ENST00000643820.1:n.471G>T
ENST00000643963.1:c.*477G>T	ENSP00000495264.1:n.*477G>T
ENST00000644073.1:c.1153G>T	ENSP00000493475.1:p.Glu385Ter
ENST00000644074.1:c.1192G>T	ENSP00000496663.1:p.Glu398Ter
ENST00000644109.1:c.1357G>T	ENSP00000494952.1:p.Glu453Ter
ENST00000644307.1:n.1365G>T
ENST00000644513.1:c.1195G>T	ENSP00000493819.1:p.Glu399Ter
ENST00000644677.1:c.1078G>T	ENSP00000496524.1:p.Glu360Ter
ENST00000644876.2:c.1195G>T MANE Select	ENSP00000494040.1:p.Glu399Ter
ENST00000644958.1:n.2856G>T
ENST00000645080.1:c.*2417G>T	ENSP00000494767.1:n.*2417G>T
ENST00000645120.1:n.2690G>T
ENST00000645338.1:n.1365G>T
ENST00000645380.1:n.2659G>T
ENST00000645561.1:n.2371G>T
ENST00000645574.1:n.4059G>T
ENST00000645589.1:c.1195G>T	ENSP00000494588.1:p.Glu399Ter
ENST00000646093.1:n.379G>T
ENST00000646107.1:c.1078G>T	ENSP00000494518.1:p.Glu360Ter
ENST00000646122.1:c.1195G>T	ENSP00000496222.1:p.Glu399Ter
ENST00000646196.1:n.2164G>T
ENST00000646223.1:c.*1188G>T	ENSP00000496043.1:n.*1188G>T
ENST00000646319.1:c.1195G>T	ENSP00000495377.1:p.Glu399Ter
ENST00000646390.1:n.3483G>T
ENST00000646627.1:c.637G>T	ENSP00000493795.1:p.Glu213Ter
ENST00000646679.1:c.637G>T	ENSP00000494887.1:p.Glu213Ter
ENST00000646822.1:n.2257G>T
ENST00000646940.1:n.1369G>T
ENST00000647286.1:n.1293G>T
ENST00000399959.6:c.1195G>T	ENSP00000382840.2:p.Glu399Ter
ENST00000441189.3:c.341-2212G>T	ENSP00000414281.2:n.341-2212G>T
ENST00000457138.6:c.1147G>T	ENSP00000392494.2:p.Glu383Ter
ENST00000478993.5:c.1195G>T	ENSP00000478443.1:p.Glu399Ter
ENST00000542215.5:n.1243G>T
ENST00000625837.2:c.1195G>T	ENSP00000486306.1:p.Glu399Ter
ENST00000626301.2:c.1195G>T	ENSP00000486443.1:p.Glu399Ter
ENST00000629496.2:c.1195G>T	ENSP00000487224.1:p.Glu399Ter
ENST00000629785.2:c.1195G>T	ENSP00000486516.1:p.Glu399Ter
ENST00000630255.2:c.1195G>T	ENSP00000486720.1:p.Glu399Ter
ENST00000630370.2:c.1195G>T	ENSP00000487062.1:p.Glu399Ter
ENST00000630858.2:c.1195G>T	ENSP00000486514.1:p.Glu399Ter
NM_001193416.2:c.1195G>T	NP_001180345.1:p.Glu399Ter
NM_001193417.2:c.1147G>T	NP_001180346.1:p.Glu383Ter
NM_001356.4:c.1195G>T	NP_001347.3:p.Glu399Ter
NR_126093.1:n.2140G>T
XM_011543892.1:c.1195G>T	XP_011542194.1:p.Glu399Ter
NM_001363819.1:c.637G>T	NP_001350748.1:p.Glu213Ter
XM_011543892.2:c.1195G>T	XP_011542194.1:p.Glu399Ter
XM_017029313.1:c.637G>T	XP_016884802.1:p.Glu213Ter
NM_001193416.3:c.1195G>T	NP_001180345.1:p.Glu399Ter
NM_001193417.3:c.1147G>T	NP_001180346.1:p.Glu383Ter
NM_001356.5:c.1195G>T MANE Select	NP_001347.3:p.Glu399Ter