Canonical Allele Identifier: CA412771297

Gene: DDX3X

Linked Data

• COSMIC: COSM255287
• MyVariant Identifiers: chrX:g.41204466G>T (hg19) ; chrX:g.41345213G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345213G>T , CM000685.2:g.41345213G>T	GRCh38
NC_000023.10:g.41204466G>T , CM000685.1:g.41204466G>T	GRCh37
NC_000023.9:g.41089410G>T	NCBI36
NG_012830.1:g.16816G>T
NG_012830.2:g.16816G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1191G>T	ENSP00000496052.2:p.Leu397Phe
ENST00000399959.7:c.1056G>T	ENSP00000382840.3:p.Leu352Phe
ENST00000441189.4:c.960G>T	ENSP00000414281.3:p.Leu320Phe
ENST00000457138.7:c.1011G>T	ENSP00000392494.2:p.Leu337Phe
ENST00000629496.3:c.1059G>T	ENSP00000487224.1:p.Leu353Phe
ENST00000642161.1:n.3258G>T
ENST00000642322.1:c.501G>T	ENSP00000496052.1:p.Leu167Phe
ENST00000642424.1:c.501G>T	ENSP00000496356.1:p.Leu167Phe
ENST00000642589.1:n.4381G>T
ENST00000642597.1:n.1233G>T
ENST00000642687.1:n.1092G>T
ENST00000642722.1:n.1892G>T
ENST00000642763.1:n.1950G>T
ENST00000642793.1:c.*508G>T	ENSP00000493976.1:n.*508G>T
ENST00000642801.1:n.708G>T
ENST00000643820.1:n.335G>T
ENST00000643963.1:c.*341G>T	ENSP00000495264.1:n.*341G>T
ENST00000644073.1:c.1017G>T	ENSP00000493475.1:p.Leu339Phe
ENST00000644074.1:c.1056G>T	ENSP00000496663.1:p.Leu352Phe
ENST00000644109.1:c.1221G>T	ENSP00000494952.1:p.Leu407Phe
ENST00000644307.1:n.1150G>T
ENST00000644513.1:c.1059G>T	ENSP00000493819.1:p.Leu353Phe
ENST00000644677.1:c.942G>T	ENSP00000496524.1:p.Leu314Phe
ENST00000644876.2:c.1059G>T MANE Select	ENSP00000494040.1:p.Leu353Phe
ENST00000644958.1:n.2720G>T
ENST00000645080.1:c.*2281G>T	ENSP00000494767.1:n.*2281G>T
ENST00000645120.1:n.2554G>T
ENST00000645338.1:n.1150G>T
ENST00000645380.1:n.2444G>T
ENST00000645561.1:n.2235G>T
ENST00000645574.1:n.3923G>T
ENST00000645589.1:c.1059G>T	ENSP00000494588.1:p.Leu353Phe
ENST00000646093.1:n.243G>T
ENST00000646107.1:c.942G>T	ENSP00000494518.1:p.Leu314Phe
ENST00000646122.1:c.1059G>T	ENSP00000496222.1:p.Leu353Phe
ENST00000646196.1:n.2028G>T
ENST00000646223.1:c.*1052G>T	ENSP00000496043.1:n.*1052G>T
ENST00000646319.1:c.1059G>T	ENSP00000495377.1:p.Leu353Phe
ENST00000646390.1:n.3347G>T
ENST00000646627.1:c.501G>T	ENSP00000493795.1:p.Leu167Phe
ENST00000646679.1:c.501G>T	ENSP00000494887.1:p.Leu167Phe
ENST00000646822.1:n.2121G>T
ENST00000646940.1:n.1233G>T
ENST00000647286.1:n.1157G>T
ENST00000399959.6:c.1059G>T	ENSP00000382840.2:p.Leu353Phe
ENST00000441189.3:c.341-2427G>T	ENSP00000414281.2:n.341-2427G>T
ENST00000457138.6:c.1011G>T	ENSP00000392494.2:p.Leu337Phe
ENST00000478993.5:c.1059G>T	ENSP00000478443.1:p.Leu353Phe
ENST00000542215.5:n.1107G>T
ENST00000625837.2:c.1059G>T	ENSP00000486306.1:p.Leu353Phe
ENST00000626301.2:c.1059G>T	ENSP00000486443.1:p.Leu353Phe
ENST00000629496.2:c.1059G>T	ENSP00000487224.1:p.Leu353Phe
ENST00000629785.2:c.1059G>T	ENSP00000486516.1:p.Leu353Phe
ENST00000630255.2:c.1059G>T	ENSP00000486720.1:p.Leu353Phe
ENST00000630370.2:c.1059G>T	ENSP00000487062.1:p.Leu353Phe
ENST00000630858.2:c.1059G>T	ENSP00000486514.1:p.Leu353Phe
NM_001193416.2:c.1059G>T	NP_001180345.1:p.Leu353Phe
NM_001193417.2:c.1011G>T	NP_001180346.1:p.Leu337Phe
NM_001356.4:c.1059G>T	NP_001347.3:p.Leu353Phe
NR_126093.1:n.2004G>T
XM_011543892.1:c.1059G>T	XP_011542194.1:p.Leu353Phe
NM_001363819.1:c.501G>T	NP_001350748.1:p.Leu167Phe
XM_011543892.2:c.1059G>T	XP_011542194.1:p.Leu353Phe
XM_017029313.1:c.501G>T	XP_016884802.1:p.Leu167Phe
NM_001193416.3:c.1059G>T	NP_001180345.1:p.Leu353Phe
NM_001193417.3:c.1011G>T	NP_001180346.1:p.Leu337Phe
NM_001356.5:c.1059G>T MANE Select	NP_001347.3:p.Leu353Phe