Canonical Allele Identifier: CA412774721

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41205549A>T (hg19) ; chrX:g.41346296A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346296A>T , CM000685.2:g.41346296A>T	GRCh38
NC_000023.10:g.41205549A>T , CM000685.1:g.41205549A>T	GRCh37
NC_000023.9:g.41090493A>T	NCBI36
NG_012830.1:g.17899A>T
NG_012830.2:g.17899A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1515A>T	ENSP00000496052.2:p.Leu505Phe
ENST00000399959.7:c.1380A>T	ENSP00000382840.3:p.Leu460Phe
ENST00000441189.4:c.1284A>T	ENSP00000414281.3:p.Leu428Phe
ENST00000457138.7:c.1335A>T	ENSP00000392494.2:p.Leu445Phe
ENST00000616050.3:c.131A>T
ENST00000629496.3:c.1383A>T	ENSP00000487224.1:p.Leu461Phe
ENST00000642161.1:n.3582A>T
ENST00000642322.1:c.825A>T	ENSP00000496052.1:p.Leu275Phe
ENST00000642424.1:c.825A>T	ENSP00000496356.1:p.Leu275Phe
ENST00000642589.1:n.4705A>T
ENST00000642597.1:n.1557A>T
ENST00000642687.1:n.1416A>T
ENST00000642722.1:n.2216A>T
ENST00000642763.1:n.2274A>T
ENST00000642793.1:c.*832A>T	ENSP00000493976.1:n.*832A>T
ENST00000642801.1:n.1032A>T
ENST00000643820.1:n.659A>T
ENST00000643963.1:c.*665A>T	ENSP00000495264.1:n.*665A>T
ENST00000644073.1:c.1341A>T	ENSP00000493475.1:p.Leu447Phe
ENST00000644074.1:c.1380A>T	ENSP00000496663.1:p.Leu460Phe
ENST00000644109.1:c.1545A>T	ENSP00000494952.1:p.Leu515Phe
ENST00000644307.1:n.1553A>T
ENST00000644513.1:c.1383A>T	ENSP00000493819.1:p.Leu461Phe
ENST00000644677.1:c.1266A>T	ENSP00000496524.1:p.Leu422Phe
ENST00000644876.2:c.1383A>T MANE Select	ENSP00000494040.1:p.Leu461Phe
ENST00000644958.1:n.3044A>T
ENST00000645080.1:c.*2605A>T	ENSP00000494767.1:n.*2605A>T
ENST00000645120.1:n.2878A>T
ENST00000645338.1:n.1553A>T
ENST00000645380.1:n.2847A>T
ENST00000645561.1:n.2559A>T
ENST00000645574.1:n.4247A>T
ENST00000645589.1:c.1383A>T	ENSP00000494588.1:p.Leu461Phe
ENST00000646107.1:c.1266A>T	ENSP00000494518.1:p.Leu422Phe
ENST00000646122.1:c.1383A>T	ENSP00000496222.1:p.Leu461Phe
ENST00000646196.1:n.2352A>T
ENST00000646223.1:c.*1376A>T	ENSP00000496043.1:n.*1376A>T
ENST00000646319.1:c.1383A>T	ENSP00000495377.1:p.Leu461Phe
ENST00000646390.1:n.3671A>T
ENST00000646627.1:c.825A>T	ENSP00000493795.1:p.Leu275Phe
ENST00000646679.1:c.825A>T	ENSP00000494887.1:p.Leu275Phe
ENST00000646822.1:n.2445A>T
ENST00000646940.1:n.1557A>T
ENST00000647286.1:n.1481A>T
ENST00000647477.1:n.122A>T
ENST00000399959.6:c.1383A>T	ENSP00000382840.2:p.Leu461Phe
ENST00000441189.3:c.341-1344A>T	ENSP00000414281.2:n.341-1344A>T
ENST00000457138.6:c.1335A>T	ENSP00000392494.2:p.Leu445Phe
ENST00000478993.5:c.1383A>T	ENSP00000478443.1:p.Leu461Phe
ENST00000542215.5:n.1431A>T
ENST00000625837.2:c.1383A>T	ENSP00000486306.1:p.Leu461Phe
ENST00000626301.2:c.1383A>T	ENSP00000486443.1:p.Leu461Phe
ENST00000629496.2:c.1383A>T	ENSP00000487224.1:p.Leu461Phe
ENST00000629785.2:c.1383A>T	ENSP00000486516.1:p.Leu461Phe
ENST00000630255.2:c.1383A>T	ENSP00000486720.1:p.Leu461Phe
ENST00000630370.2:c.1383A>T	ENSP00000487062.1:p.Leu461Phe
ENST00000630858.2:c.1383A>T	ENSP00000486514.1:p.Leu461Phe
NM_001193416.2:c.1383A>T	NP_001180345.1:p.Leu461Phe
NM_001193417.2:c.1335A>T	NP_001180346.1:p.Leu445Phe
NM_001356.4:c.1383A>T	NP_001347.3:p.Leu461Phe
NR_126093.1:n.2328A>T
XM_011543892.1:c.1383A>T	XP_011542194.1:p.Leu461Phe
NM_001363819.1:c.825A>T	NP_001350748.1:p.Leu275Phe
XM_011543892.2:c.1383A>T	XP_011542194.1:p.Leu461Phe
XM_017029313.1:c.825A>T	XP_016884802.1:p.Leu275Phe
NM_001193416.3:c.1383A>T	NP_001180345.1:p.Leu461Phe
NM_001193417.3:c.1335A>T	NP_001180346.1:p.Leu445Phe
NM_001356.5:c.1383A>T MANE Select	NP_001347.3:p.Leu461Phe