Canonical Allele Identifier: CA412771596

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41204658T>G (hg19) ; chrX:g.41345405T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345405T>G , CM000685.2:g.41345405T>G	GRCh38
NC_000023.10:g.41204658T>G , CM000685.1:g.41204658T>G	GRCh37
NC_000023.9:g.41089602T>G	NCBI36
NG_012830.1:g.17008T>G
NG_012830.2:g.17008T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1304T>G	ENSP00000496052.2:p.Met435Arg
ENST00000399959.7:c.1169T>G	ENSP00000382840.3:p.Met390Arg
ENST00000441189.4:c.1073T>G	ENSP00000414281.3:p.Met358Arg
ENST00000457138.7:c.1124T>G	ENSP00000392494.2:p.Met375Arg
ENST00000629496.3:c.1172T>G	ENSP00000487224.1:p.Met391Arg
ENST00000642161.1:n.3371T>G
ENST00000642322.1:c.614T>G	ENSP00000496052.1:p.Met205Arg
ENST00000642424.1:c.614T>G	ENSP00000496356.1:p.Met205Arg
ENST00000642589.1:n.4494T>G
ENST00000642597.1:n.1346T>G
ENST00000642687.1:n.1205T>G
ENST00000642722.1:n.2005T>G
ENST00000642763.1:n.2063T>G
ENST00000642793.1:c.*621T>G	ENSP00000493976.1:n.*621T>G
ENST00000642801.1:n.821T>G
ENST00000643820.1:n.448T>G
ENST00000643963.1:c.*454T>G	ENSP00000495264.1:n.*454T>G
ENST00000644073.1:c.1130T>G	ENSP00000493475.1:p.Met377Arg
ENST00000644074.1:c.1169T>G	ENSP00000496663.1:p.Met390Arg
ENST00000644109.1:c.1334T>G	ENSP00000494952.1:p.Met445Arg
ENST00000644307.1:n.1342T>G
ENST00000644513.1:c.1172T>G	ENSP00000493819.1:p.Met391Arg
ENST00000644677.1:c.1055T>G	ENSP00000496524.1:p.Met352Arg
ENST00000644876.2:c.1172T>G MANE Select	ENSP00000494040.1:p.Met391Arg
ENST00000644958.1:n.2833T>G
ENST00000645080.1:c.*2394T>G	ENSP00000494767.1:n.*2394T>G
ENST00000645120.1:n.2667T>G
ENST00000645338.1:n.1342T>G
ENST00000645380.1:n.2636T>G
ENST00000645561.1:n.2348T>G
ENST00000645574.1:n.4036T>G
ENST00000645589.1:c.1172T>G	ENSP00000494588.1:p.Met391Arg
ENST00000646093.1:n.356T>G
ENST00000646107.1:c.1055T>G	ENSP00000494518.1:p.Met352Arg
ENST00000646122.1:c.1172T>G	ENSP00000496222.1:p.Met391Arg
ENST00000646196.1:n.2141T>G
ENST00000646223.1:c.*1165T>G	ENSP00000496043.1:n.*1165T>G
ENST00000646319.1:c.1172T>G	ENSP00000495377.1:p.Met391Arg
ENST00000646390.1:n.3460T>G
ENST00000646627.1:c.614T>G	ENSP00000493795.1:p.Met205Arg
ENST00000646679.1:c.614T>G	ENSP00000494887.1:p.Met205Arg
ENST00000646822.1:n.2234T>G
ENST00000646940.1:n.1346T>G
ENST00000647286.1:n.1270T>G
ENST00000399959.6:c.1172T>G	ENSP00000382840.2:p.Met391Arg
ENST00000441189.3:c.341-2235T>G	ENSP00000414281.2:n.341-2235T>G
ENST00000457138.6:c.1124T>G	ENSP00000392494.2:p.Met375Arg
ENST00000478993.5:c.1172T>G	ENSP00000478443.1:p.Met391Arg
ENST00000542215.5:n.1220T>G
ENST00000625837.2:c.1172T>G	ENSP00000486306.1:p.Met391Arg
ENST00000626301.2:c.1172T>G	ENSP00000486443.1:p.Met391Arg
ENST00000629496.2:c.1172T>G	ENSP00000487224.1:p.Met391Arg
ENST00000629785.2:c.1172T>G	ENSP00000486516.1:p.Met391Arg
ENST00000630255.2:c.1172T>G	ENSP00000486720.1:p.Met391Arg
ENST00000630370.2:c.1172T>G	ENSP00000487062.1:p.Met391Arg
ENST00000630858.2:c.1172T>G	ENSP00000486514.1:p.Met391Arg
NM_001193416.2:c.1172T>G	NP_001180345.1:p.Met391Arg
NM_001193417.2:c.1124T>G	NP_001180346.1:p.Met375Arg
NM_001356.4:c.1172T>G	NP_001347.3:p.Met391Arg
NR_126093.1:n.2117T>G
XM_011543892.1:c.1172T>G	XP_011542194.1:p.Met391Arg
NM_001363819.1:c.614T>G	NP_001350748.1:p.Met205Arg
XM_011543892.2:c.1172T>G	XP_011542194.1:p.Met391Arg
XM_017029313.1:c.614T>G	XP_016884802.1:p.Met205Arg
NM_001193416.3:c.1172T>G	NP_001180345.1:p.Met391Arg
NM_001193417.3:c.1124T>G	NP_001180346.1:p.Met375Arg
NM_001356.5:c.1172T>G MANE Select	NP_001347.3:p.Met391Arg