Canonical Allele Identifier: CA412771789

Gene: DDX3X

Linked Data

• gnomAD v3: X-41345442-G-T
• gnomAD v4: X-41345442-G-T
• COSMIC: COSM6245172
• MyVariant Identifiers: chrX:g.41204695G>T (hg19) ; chrX:g.41345442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345442G>T , CM000685.2:g.41345442G>T	GRCh38
NC_000023.10:g.41204695G>T , CM000685.1:g.41204695G>T	GRCh37
NC_000023.9:g.41089639G>T	NCBI36
NG_012830.1:g.17045G>T
NG_012830.2:g.17045G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1341G>T	ENSP00000496052.2:p.Leu447Phe
ENST00000399959.7:c.1206G>T	ENSP00000382840.3:p.Leu402Phe
ENST00000441189.4:c.1110G>T	ENSP00000414281.3:p.Leu370Phe
ENST00000457138.7:c.1161G>T	ENSP00000392494.2:p.Leu387Phe
ENST00000629496.3:c.1209G>T	ENSP00000487224.1:p.Leu403Phe
ENST00000642161.1:n.3408G>T
ENST00000642322.1:c.651G>T	ENSP00000496052.1:p.Leu217Phe
ENST00000642424.1:c.651G>T	ENSP00000496356.1:p.Leu217Phe
ENST00000642589.1:n.4531G>T
ENST00000642597.1:n.1383G>T
ENST00000642687.1:n.1242G>T
ENST00000642722.1:n.2042G>T
ENST00000642763.1:n.2100G>T
ENST00000642793.1:c.*658G>T	ENSP00000493976.1:n.*658G>T
ENST00000642801.1:n.858G>T
ENST00000643820.1:n.485G>T
ENST00000643963.1:c.*491G>T	ENSP00000495264.1:n.*491G>T
ENST00000644073.1:c.1167G>T	ENSP00000493475.1:p.Leu389Phe
ENST00000644074.1:c.1206G>T	ENSP00000496663.1:p.Leu402Phe
ENST00000644109.1:c.1371G>T	ENSP00000494952.1:p.Leu457Phe
ENST00000644307.1:n.1379G>T
ENST00000644513.1:c.1209G>T	ENSP00000493819.1:p.Leu403Phe
ENST00000644677.1:c.1092G>T	ENSP00000496524.1:p.Leu364Phe
ENST00000644876.2:c.1209G>T MANE Select	ENSP00000494040.1:p.Leu403Phe
ENST00000644958.1:n.2870G>T
ENST00000645080.1:c.*2431G>T	ENSP00000494767.1:n.*2431G>T
ENST00000645120.1:n.2704G>T
ENST00000645338.1:n.1379G>T
ENST00000645380.1:n.2673G>T
ENST00000645561.1:n.2385G>T
ENST00000645574.1:n.4073G>T
ENST00000645589.1:c.1209G>T	ENSP00000494588.1:p.Leu403Phe
ENST00000646093.1:n.393G>T
ENST00000646107.1:c.1092G>T	ENSP00000494518.1:p.Leu364Phe
ENST00000646122.1:c.1209G>T	ENSP00000496222.1:p.Leu403Phe
ENST00000646196.1:n.2178G>T
ENST00000646223.1:c.*1202G>T	ENSP00000496043.1:n.*1202G>T
ENST00000646319.1:c.1209G>T	ENSP00000495377.1:p.Leu403Phe
ENST00000646390.1:n.3497G>T
ENST00000646627.1:c.651G>T	ENSP00000493795.1:p.Leu217Phe
ENST00000646679.1:c.651G>T	ENSP00000494887.1:p.Leu217Phe
ENST00000646822.1:n.2271G>T
ENST00000646940.1:n.1383G>T
ENST00000647286.1:n.1307G>T
ENST00000399959.6:c.1209G>T	ENSP00000382840.2:p.Leu403Phe
ENST00000441189.3:c.341-2198G>T	ENSP00000414281.2:n.341-2198G>T
ENST00000457138.6:c.1161G>T	ENSP00000392494.2:p.Leu387Phe
ENST00000478993.5:c.1209G>T	ENSP00000478443.1:p.Leu403Phe
ENST00000542215.5:n.1257G>T
ENST00000625837.2:c.1209G>T	ENSP00000486306.1:p.Leu403Phe
ENST00000626301.2:c.1209G>T	ENSP00000486443.1:p.Leu403Phe
ENST00000629496.2:c.1209G>T	ENSP00000487224.1:p.Leu403Phe
ENST00000629785.2:c.1209G>T	ENSP00000486516.1:p.Leu403Phe
ENST00000630255.2:c.1209G>T	ENSP00000486720.1:p.Leu403Phe
ENST00000630370.2:c.1209G>T	ENSP00000487062.1:p.Leu403Phe
ENST00000630858.2:c.1209G>T	ENSP00000486514.1:p.Leu403Phe
NM_001193416.2:c.1209G>T	NP_001180345.1:p.Leu403Phe
NM_001193417.2:c.1161G>T	NP_001180346.1:p.Leu387Phe
NM_001356.4:c.1209G>T	NP_001347.3:p.Leu403Phe
NR_126093.1:n.2154G>T
XM_011543892.1:c.1209G>T	XP_011542194.1:p.Leu403Phe
NM_001363819.1:c.651G>T	NP_001350748.1:p.Leu217Phe
XM_011543892.2:c.1209G>T	XP_011542194.1:p.Leu403Phe
XM_017029313.1:c.651G>T	XP_016884802.1:p.Leu217Phe
NM_001193416.3:c.1209G>T	NP_001180345.1:p.Leu403Phe
NM_001193417.3:c.1161G>T	NP_001180346.1:p.Leu387Phe
NM_001356.5:c.1209G>T MANE Select	NP_001347.3:p.Leu403Phe