Canonical Allele Identifier: CA412780704

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41206892G>T (hg19) ; chrX:g.41347639G>T (hg38)
• MutSpliceDB: CA412780704

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41347639G>T , CM000685.2:g.41347639G>T	GRCh38
NC_000023.10:g.41206892G>T , CM000685.1:g.41206892G>T	GRCh37
NC_000023.9:g.41091836G>T	NCBI36
NG_012830.1:g.19242G>T
NG_012830.2:g.19242G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.2042-1G>T	ENSP00000496052.2:n.2042-1G>T
ENST00000399959.7:c.1907-1G>T	ENSP00000382840.3:n.1907-1G>T
ENST00000441189.4:c.1811-1G>T	ENSP00000414281.3:n.1811-1G>T
ENST00000457138.7:c.1862-1G>T	ENSP00000392494.2:n.1862-1G>T
ENST00000611968.2:c.503+188G>T
ENST00000616050.3:c.654+188G>T
ENST00000629496.3:c.1910-1G>T	ENSP00000487224.1:n.1910-1G>T
ENST00000642161.1:n.4109-1G>T
ENST00000642322.1:c.1352-1G>T	ENSP00000496052.1:n.1352-1G>T
ENST00000642424.1:c.1352-1G>T	ENSP00000496356.1:n.1352-1G>T
ENST00000642589.1:n.5229-1G>T
ENST00000642597.1:n.2081-1G>T
ENST00000642687.1:n.1943-1G>T
ENST00000642722.1:n.2743-1G>T
ENST00000642763.1:n.2798-1G>T
ENST00000642793.1:c.*1356-1G>T	ENSP00000493976.1:n.*1356-1G>T
ENST00000642801.1:n.1556-1G>T
ENST00000643820.1:n.1277-1G>T
ENST00000643963.1:c.*1189-1G>T	ENSP00000495264.1:n.*1189-1G>T
ENST00000644073.1:c.1865-1G>T	ENSP00000493475.1:n.1865-1G>T
ENST00000644074.1:c.1904-1G>T	ENSP00000496663.1:n.1904-1G>T
ENST00000644109.1:c.2072-1G>T	ENSP00000494952.1:n.2072-1G>T
ENST00000644307.1:n.2077-1G>T
ENST00000644513.1:c.1910-1G>T	ENSP00000493819.1:n.1910-1G>T
ENST00000644677.1:c.1790-1G>T	ENSP00000496524.1:n.1790-1G>T
ENST00000644876.2:c.1910-1G>T MANE Select	ENSP00000494040.1:n.1910-1G>T
ENST00000644958.1:n.3571-1G>T
ENST00000645080.1:c.*3129-1G>T	ENSP00000494767.1:n.*3129-1G>T
ENST00000645120.1:n.3405-1G>T
ENST00000645338.1:n.2080-1G>T
ENST00000645380.1:n.3371-1G>T
ENST00000645561.1:n.3083-1G>T
ENST00000645574.1:n.5073-1G>T
ENST00000645589.1:c.*409-1G>T	ENSP00000494588.1:n.*409-1G>T
ENST00000646107.1:c.1790-1G>T	ENSP00000494518.1:n.1790-1G>T
ENST00000646122.1:c.*171G>T	ENSP00000496222.1:n.*171G>T
ENST00000646196.1:n.2879-1G>T
ENST00000646223.1:c.*1900-1G>T	ENSP00000496043.1:n.*1900-1G>T
ENST00000646319.1:c.1907-1G>T	ENSP00000495377.1:n.1907-1G>T
ENST00000646390.1:n.4198-1G>T
ENST00000646627.1:c.1352-1G>T	ENSP00000493795.1:n.1352-1G>T
ENST00000646679.1:c.1349-1G>T	ENSP00000494887.1:n.1349-1G>T
ENST00000646822.1:n.2972-1G>T
ENST00000646940.1:n.2084-1G>T
ENST00000647286.1:n.2008-1G>T
ENST00000647477.1:n.1135G>T
ENST00000399959.6:c.1910-1G>T	ENSP00000382840.2:n.1910-1G>T
ENST00000441189.3:c.341-1G>T	ENSP00000414281.2:n.341-1G>T
ENST00000457138.6:c.1862-1G>T	ENSP00000392494.2:n.1862-1G>T
ENST00000478993.5:c.1910-1G>T	ENSP00000478443.1:n.1910-1G>T
ENST00000611968.1:c.351+188G>T
ENST00000616050.2:c.459+188G>T
ENST00000625837.2:c.1909+188G>T	ENSP00000486306.1:n.1909+188G>T
ENST00000626301.2:c.1909+188G>T	ENSP00000486443.1:n.1909+188G>T
ENST00000629496.2:c.1910-1G>T	ENSP00000487224.1:n.1910-1G>T
ENST00000629785.2:c.1910-1G>T	ENSP00000486516.1:n.1910-1G>T
ENST00000630255.2:c.1910-1G>T	ENSP00000486720.1:n.1910-1G>T
ENST00000630370.2:c.1909+188G>T	ENSP00000487062.1:n.1909+188G>T
ENST00000630858.2:c.1909+188G>T	ENSP00000486514.1:n.1909+188G>T
NM_001193416.2:c.1907-1G>T	NP_001180345.1:n.1907-1G>T
NM_001193417.2:c.1862-1G>T	NP_001180346.1:n.1862-1G>T
NM_001356.4:c.1910-1G>T	NP_001347.3:n.1910-1G>T
NR_126093.1:n.2855-1G>T
XM_011543892.1:c.1770-1G>T	XP_011542194.1:n.1770-1G>T
NM_001363819.1:c.1349-1G>T	NP_001350748.1:n.1349-1G>T
XM_011543892.2:c.1770-1G>T	XP_011542194.1:n.1770-1G>T
XM_017029313.1:c.1352-1G>T	XP_016884802.1:n.1352-1G>T
NM_001193416.3:c.1907-1G>T	NP_001180345.1:n.1907-1G>T
NM_001193417.3:c.1862-1G>T	NP_001180346.1:n.1862-1G>T
NM_001356.5:c.1910-1G>T MANE Select	NP_001347.3:n.1910-1G>T