Canonical Allele Identifier: CA412771104

Gene: DDX3X

Linked Data

• COSMIC: COSM216197
• MyVariant Identifiers: chrX:g.41203613A>T (hg19) ; chrX:g.41344360A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344360A>T , CM000685.2:g.41344360A>T	GRCh38
NC_000023.10:g.41203613A>T , CM000685.1:g.41203613A>T	GRCh37
NC_000023.9:g.41088557A>T	NCBI36
NG_012830.1:g.15963A>T
NG_012830.2:g.15963A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1118A>T	ENSP00000496052.2:p.Asp373Val
ENST00000399959.7:c.983A>T	ENSP00000382840.3:p.Asp328Val
ENST00000441189.4:c.887A>T	ENSP00000414281.3:p.Asp296Val
ENST00000457138.7:c.938A>T	ENSP00000392494.2:p.Asp313Val
ENST00000629496.3:c.986A>T	ENSP00000487224.1:p.Asp329Val
ENST00000631641.2:n.1029A>T
ENST00000642161.1:n.3185A>T
ENST00000642322.1:c.428A>T	ENSP00000496052.1:p.Asp143Val
ENST00000642424.1:c.428A>T	ENSP00000496356.1:p.Asp143Val
ENST00000642589.1:n.4308A>T
ENST00000642597.1:n.1160A>T
ENST00000642687.1:n.1019A>T
ENST00000642722.1:n.1819A>T
ENST00000642763.1:n.1877A>T
ENST00000642793.1:c.*435A>T	ENSP00000493976.1:n.*435A>T
ENST00000642801.1:n.635A>T
ENST00000643820.1:n.262A>T
ENST00000643963.1:c.*268A>T	ENSP00000495264.1:n.*268A>T
ENST00000644073.1:c.944A>T	ENSP00000493475.1:p.Asp315Val
ENST00000644074.1:c.983A>T	ENSP00000496663.1:p.Asp328Val
ENST00000644109.1:c.983A>T	ENSP00000494952.1:p.Asp328Val
ENST00000644307.1:n.1077A>T
ENST00000644513.1:c.986A>T	ENSP00000493819.1:p.Asp329Val
ENST00000644677.1:c.869A>T	ENSP00000496524.1:p.Asp290Val
ENST00000644876.2:c.986A>T MANE Select	ENSP00000494040.1:p.Asp329Val
ENST00000644958.1:n.2647A>T
ENST00000645080.1:c.*2208A>T	ENSP00000494767.1:n.*2208A>T
ENST00000645120.1:n.2481A>T
ENST00000645338.1:n.1077A>T
ENST00000645380.1:n.2371A>T
ENST00000645561.1:n.2162A>T
ENST00000645574.1:n.3850A>T
ENST00000645589.1:c.986A>T	ENSP00000494588.1:p.Asp329Val
ENST00000646093.1:n.170A>T
ENST00000646107.1:c.869A>T	ENSP00000494518.1:p.Asp290Val
ENST00000646122.1:c.986A>T	ENSP00000496222.1:p.Asp329Val
ENST00000646196.1:n.1955A>T
ENST00000646223.1:c.*979A>T	ENSP00000496043.1:n.*979A>T
ENST00000646319.1:c.986A>T	ENSP00000495377.1:p.Asp329Val
ENST00000646390.1:n.3274A>T
ENST00000646627.1:c.428A>T	ENSP00000493795.1:p.Asp143Val
ENST00000646679.1:c.428A>T	ENSP00000494887.1:p.Asp143Val
ENST00000646822.1:n.2048A>T
ENST00000646940.1:n.1160A>T
ENST00000647286.1:n.1084A>T
ENST00000399959.6:c.986A>T	ENSP00000382840.2:p.Asp329Val
ENST00000441189.3:c.340+1810A>T	ENSP00000414281.2:n.340+1810A>T
ENST00000457138.6:c.938A>T	ENSP00000392494.2:p.Asp313Val
ENST00000478993.5:c.986A>T	ENSP00000478443.1:p.Asp329Val
ENST00000542215.5:n.1034A>T
ENST00000625837.2:c.986A>T	ENSP00000486306.1:p.Asp329Val
ENST00000626301.2:c.986A>T	ENSP00000486443.1:p.Asp329Val
ENST00000629496.2:c.986A>T	ENSP00000487224.1:p.Asp329Val
ENST00000629785.2:c.986A>T	ENSP00000486516.1:p.Asp329Val
ENST00000630255.2:c.986A>T	ENSP00000486720.1:p.Asp329Val
ENST00000630370.2:c.986A>T	ENSP00000487062.1:p.Asp329Val
ENST00000630858.2:c.986A>T	ENSP00000486514.1:p.Asp329Val
NM_001193416.2:c.986A>T	NP_001180345.1:p.Asp329Val
NM_001193417.2:c.938A>T	NP_001180346.1:p.Asp313Val
NM_001356.4:c.986A>T	NP_001347.3:p.Asp329Val
NR_126093.1:n.1931A>T
XM_011543892.1:c.986A>T	XP_011542194.1:p.Asp329Val
NM_001363819.1:c.428A>T	NP_001350748.1:p.Asp143Val
XM_011543892.2:c.986A>T	XP_011542194.1:p.Asp329Val
XM_017029313.1:c.428A>T	XP_016884802.1:p.Asp143Val
NM_001193416.3:c.986A>T	NP_001180345.1:p.Asp329Val
NM_001193417.3:c.938A>T	NP_001180346.1:p.Asp313Val
NM_001356.5:c.986A>T MANE Select	NP_001347.3:p.Asp329Val