Canonical Allele Identifier: CA412775869

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41205651A>T (hg19) ; chrX:g.41346398A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346398A>T , CM000685.2:g.41346398A>T	GRCh38
NC_000023.10:g.41205651A>T , CM000685.1:g.41205651A>T	GRCh37
NC_000023.9:g.41090595A>T	NCBI36
NG_012830.1:g.18001A>T
NG_012830.2:g.18001A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1617A>T	ENSP00000496052.2:p.Leu539Phe
ENST00000399959.7:c.1482A>T	ENSP00000382840.3:p.Leu494Phe
ENST00000441189.4:c.1386A>T	ENSP00000414281.3:p.Leu462Phe
ENST00000457138.7:c.1437A>T	ENSP00000392494.2:p.Leu479Phe
ENST00000611968.2:c.79A>T
ENST00000616050.3:c.233A>T
ENST00000629496.3:c.1485A>T	ENSP00000487224.1:p.Leu495Phe
ENST00000642161.1:n.3684A>T
ENST00000642322.1:c.927A>T	ENSP00000496052.1:p.Leu309Phe
ENST00000642424.1:c.927A>T	ENSP00000496356.1:p.Leu309Phe
ENST00000642589.1:n.4807A>T
ENST00000642597.1:n.1659A>T
ENST00000642687.1:n.1518A>T
ENST00000642722.1:n.2318A>T
ENST00000642763.1:n.2376A>T
ENST00000642793.1:c.*934A>T	ENSP00000493976.1:n.*934A>T
ENST00000642801.1:n.1134A>T
ENST00000643820.1:n.761A>T
ENST00000643963.1:c.*767A>T	ENSP00000495264.1:n.*767A>T
ENST00000644073.1:c.1443A>T	ENSP00000493475.1:p.Leu481Phe
ENST00000644074.1:c.1482A>T	ENSP00000496663.1:p.Leu494Phe
ENST00000644109.1:c.1647A>T	ENSP00000494952.1:p.Leu549Phe
ENST00000644307.1:n.1655A>T
ENST00000644513.1:c.1485A>T	ENSP00000493819.1:p.Leu495Phe
ENST00000644677.1:c.1368A>T	ENSP00000496524.1:p.Leu456Phe
ENST00000644876.2:c.1485A>T MANE Select	ENSP00000494040.1:p.Leu495Phe
ENST00000644958.1:n.3146A>T
ENST00000645080.1:c.*2707A>T	ENSP00000494767.1:n.*2707A>T
ENST00000645120.1:n.2980A>T
ENST00000645338.1:n.1655A>T
ENST00000645380.1:n.2949A>T
ENST00000645561.1:n.2661A>T
ENST00000645574.1:n.4349A>T
ENST00000645589.1:c.1485A>T	ENSP00000494588.1:p.Leu495Phe
ENST00000646107.1:c.1368A>T	ENSP00000494518.1:p.Leu456Phe
ENST00000646122.1:c.1485A>T	ENSP00000496222.1:p.Leu495Phe
ENST00000646196.1:n.2454A>T
ENST00000646223.1:c.*1478A>T	ENSP00000496043.1:n.*1478A>T
ENST00000646319.1:c.1485A>T	ENSP00000495377.1:p.Leu495Phe
ENST00000646390.1:n.3773A>T
ENST00000646627.1:c.927A>T	ENSP00000493795.1:p.Leu309Phe
ENST00000646679.1:c.927A>T	ENSP00000494887.1:p.Leu309Phe
ENST00000646822.1:n.2547A>T
ENST00000646940.1:n.1659A>T
ENST00000647286.1:n.1583A>T
ENST00000647477.1:n.224A>T
ENST00000399959.6:c.1485A>T	ENSP00000382840.2:p.Leu495Phe
ENST00000441189.3:c.341-1242A>T	ENSP00000414281.2:n.341-1242A>T
ENST00000457138.6:c.1437A>T	ENSP00000392494.2:p.Leu479Phe
ENST00000478993.5:c.1485A>T	ENSP00000478443.1:p.Leu495Phe
ENST00000542215.5:n.1533A>T
ENST00000616050.2:c.38A>T
ENST00000625837.2:c.1485A>T	ENSP00000486306.1:p.Leu495Phe
ENST00000626301.2:c.1485A>T	ENSP00000486443.1:p.Leu495Phe
ENST00000629496.2:c.1485A>T	ENSP00000487224.1:p.Leu495Phe
ENST00000629785.2:c.1485A>T	ENSP00000486516.1:p.Leu495Phe
ENST00000630255.2:c.1485A>T	ENSP00000486720.1:p.Leu495Phe
ENST00000630370.2:c.1485A>T	ENSP00000487062.1:p.Leu495Phe
ENST00000630858.2:c.1485A>T	ENSP00000486514.1:p.Leu495Phe
NM_001193416.2:c.1485A>T	NP_001180345.1:p.Leu495Phe
NM_001193417.2:c.1437A>T	NP_001180346.1:p.Leu479Phe
NM_001356.4:c.1485A>T	NP_001347.3:p.Leu495Phe
NR_126093.1:n.2430A>T
XM_011543892.1:c.1485A>T	XP_011542194.1:p.Leu495Phe
NM_001363819.1:c.927A>T	NP_001350748.1:p.Leu309Phe
XM_011543892.2:c.1485A>T	XP_011542194.1:p.Leu495Phe
XM_017029313.1:c.927A>T	XP_016884802.1:p.Leu309Phe
NM_001193416.3:c.1485A>T	NP_001180345.1:p.Leu495Phe
NM_001193417.3:c.1437A>T	NP_001180346.1:p.Leu479Phe
NM_001356.5:c.1485A>T MANE Select	NP_001347.3:p.Leu495Phe