Canonical Allele Identifier: CA412771531

Gene: DDX3X

Linked Data

• dbSNP Id: rs1440305030
• MyVariant Identifiers: chrX:g.41204566A>G (hg19) ; chrX:g.41345313A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345313A>G , CM000685.2:g.41345313A>G	GRCh38
NC_000023.10:g.41204566A>G , CM000685.1:g.41204566A>G	GRCh37
NC_000023.9:g.41089510A>G	NCBI36
NG_012830.1:g.16916A>G
NG_012830.2:g.16916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1291A>G	ENSP00000496052.2:p.Lys431Glu
ENST00000399959.7:c.1156A>G	ENSP00000382840.3:p.Lys386Glu
ENST00000441189.4:c.1060A>G	ENSP00000414281.3:p.Lys354Glu
ENST00000457138.7:c.1111A>G	ENSP00000392494.2:p.Lys371Glu
ENST00000629496.3:c.1159A>G	ENSP00000487224.1:p.Lys387Glu
ENST00000642161.1:n.3358A>G
ENST00000642322.1:c.601A>G	ENSP00000496052.1:p.Lys201Glu
ENST00000642424.1:c.601A>G	ENSP00000496356.1:p.Lys201Glu
ENST00000642589.1:n.4481A>G
ENST00000642597.1:n.1333A>G
ENST00000642687.1:n.1192A>G
ENST00000642722.1:n.1992A>G
ENST00000642763.1:n.2050A>G
ENST00000642793.1:c.*608A>G	ENSP00000493976.1:n.*608A>G
ENST00000642801.1:n.808A>G
ENST00000643820.1:n.435A>G
ENST00000643963.1:c.*441A>G	ENSP00000495264.1:n.*441A>G
ENST00000644073.1:c.1117A>G	ENSP00000493475.1:p.Lys373Glu
ENST00000644074.1:c.1156A>G	ENSP00000496663.1:p.Lys386Glu
ENST00000644109.1:c.1321A>G	ENSP00000494952.1:p.Lys441Glu
ENST00000644307.1:n.1250A>G
ENST00000644513.1:c.1159A>G	ENSP00000493819.1:p.Lys387Glu
ENST00000644677.1:c.1042A>G	ENSP00000496524.1:p.Lys348Glu
ENST00000644876.2:c.1159A>G MANE Select	ENSP00000494040.1:p.Lys387Glu
ENST00000644958.1:n.2820A>G
ENST00000645080.1:c.*2381A>G	ENSP00000494767.1:n.*2381A>G
ENST00000645120.1:n.2654A>G
ENST00000645338.1:n.1250A>G
ENST00000645380.1:n.2544A>G
ENST00000645561.1:n.2335A>G
ENST00000645574.1:n.4023A>G
ENST00000645589.1:c.1159A>G	ENSP00000494588.1:p.Lys387Glu
ENST00000646093.1:n.343A>G
ENST00000646107.1:c.1042A>G	ENSP00000494518.1:p.Lys348Glu
ENST00000646122.1:c.1159A>G	ENSP00000496222.1:p.Lys387Glu
ENST00000646196.1:n.2128A>G
ENST00000646223.1:c.*1152A>G	ENSP00000496043.1:n.*1152A>G
ENST00000646319.1:c.1159A>G	ENSP00000495377.1:p.Lys387Glu
ENST00000646390.1:n.3447A>G
ENST00000646627.1:c.601A>G	ENSP00000493795.1:p.Lys201Glu
ENST00000646679.1:c.601A>G	ENSP00000494887.1:p.Lys201Glu
ENST00000646822.1:n.2221A>G
ENST00000646940.1:n.1333A>G
ENST00000647286.1:n.1257A>G
ENST00000399959.6:c.1159A>G	ENSP00000382840.2:p.Lys387Glu
ENST00000441189.3:c.341-2327A>G	ENSP00000414281.2:n.341-2327A>G
ENST00000457138.6:c.1111A>G	ENSP00000392494.2:p.Lys371Glu
ENST00000478993.5:c.1159A>G	ENSP00000478443.1:p.Lys387Glu
ENST00000542215.5:n.1207A>G
ENST00000625837.2:c.1159A>G	ENSP00000486306.1:p.Lys387Glu
ENST00000626301.2:c.1159A>G	ENSP00000486443.1:p.Lys387Glu
ENST00000629496.2:c.1159A>G	ENSP00000487224.1:p.Lys387Glu
ENST00000629785.2:c.1159A>G	ENSP00000486516.1:p.Lys387Glu
ENST00000630255.2:c.1159A>G	ENSP00000486720.1:p.Lys387Glu
ENST00000630370.2:c.1159A>G	ENSP00000487062.1:p.Lys387Glu
ENST00000630858.2:c.1159A>G	ENSP00000486514.1:p.Lys387Glu
NM_001193416.2:c.1159A>G	NP_001180345.1:p.Lys387Glu
NM_001193417.2:c.1111A>G	NP_001180346.1:p.Lys371Glu
NM_001356.4:c.1159A>G	NP_001347.3:p.Lys387Glu
NR_126093.1:n.2104A>G
XM_011543892.1:c.1159A>G	XP_011542194.1:p.Lys387Glu
NM_001363819.1:c.601A>G	NP_001350748.1:p.Lys201Glu
XM_011543892.2:c.1159A>G	XP_011542194.1:p.Lys387Glu
XM_017029313.1:c.601A>G	XP_016884802.1:p.Lys201Glu
NM_001193416.3:c.1159A>G	NP_001180345.1:p.Lys387Glu
NM_001193417.3:c.1111A>G	NP_001180346.1:p.Lys371Glu
NM_001356.5:c.1159A>G MANE Select	NP_001347.3:p.Lys387Glu