Canonical Allele Identifier: CA412770647

Gene: DDX3X

Linked Data

• gnomAD v4: X-41344254-A-G
• MyVariant Identifiers: chrX:g.41203507A>G (hg19) ; chrX:g.41344254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344254A>G , CM000685.2:g.41344254A>G	GRCh38
NC_000023.10:g.41203507A>G , CM000685.1:g.41203507A>G	GRCh37
NC_000023.9:g.41088451A>G	NCBI36
NG_012830.1:g.15857A>G
NG_012830.2:g.15857A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1012A>G	ENSP00000496052.2:p.Arg338Gly
ENST00000399959.7:c.877A>G	ENSP00000382840.3:p.Arg293Gly
ENST00000441189.4:c.781A>G	ENSP00000414281.3:p.Arg261Gly
ENST00000457138.7:c.832A>G	ENSP00000392494.2:p.Arg278Gly
ENST00000629496.3:c.880A>G	ENSP00000487224.1:p.Arg294Gly
ENST00000631641.2:n.923A>G
ENST00000642161.1:n.3079A>G
ENST00000642322.1:c.322A>G	ENSP00000496052.1:p.Arg108Gly
ENST00000642424.1:c.322A>G	ENSP00000496356.1:p.Arg108Gly
ENST00000642589.1:n.4202A>G
ENST00000642597.1:n.1054A>G
ENST00000642687.1:n.913A>G
ENST00000642722.1:n.1713A>G
ENST00000642763.1:n.1771A>G
ENST00000642793.1:c.*329A>G	ENSP00000493976.1:n.*329A>G
ENST00000642801.1:n.529A>G
ENST00000643820.1:n.156A>G
ENST00000643963.1:c.*162A>G	ENSP00000495264.1:n.*162A>G
ENST00000644073.1:c.838A>G	ENSP00000493475.1:p.Arg280Gly
ENST00000644074.1:c.877A>G	ENSP00000496663.1:p.Arg293Gly
ENST00000644109.1:c.877A>G	ENSP00000494952.1:p.Arg293Gly
ENST00000644307.1:n.971A>G
ENST00000644513.1:c.880A>G	ENSP00000493819.1:p.Arg294Gly
ENST00000644677.1:c.763A>G	ENSP00000496524.1:p.Arg255Gly
ENST00000644876.2:c.880A>G MANE Select	ENSP00000494040.1:p.Arg294Gly
ENST00000644958.1:n.2541A>G
ENST00000645080.1:c.*2102A>G	ENSP00000494767.1:n.*2102A>G
ENST00000645120.1:n.2375A>G
ENST00000645338.1:n.971A>G
ENST00000645380.1:n.2265A>G
ENST00000645561.1:n.2056A>G
ENST00000645574.1:n.3744A>G
ENST00000645589.1:c.880A>G	ENSP00000494588.1:p.Arg294Gly
ENST00000646093.1:n.64A>G
ENST00000646107.1:c.763A>G	ENSP00000494518.1:p.Arg255Gly
ENST00000646122.1:c.880A>G	ENSP00000496222.1:p.Arg294Gly
ENST00000646196.1:n.1849A>G
ENST00000646223.1:c.*873A>G	ENSP00000496043.1:n.*873A>G
ENST00000646319.1:c.880A>G	ENSP00000495377.1:p.Arg294Gly
ENST00000646390.1:n.3168A>G
ENST00000646627.1:c.322A>G	ENSP00000493795.1:p.Arg108Gly
ENST00000646679.1:c.322A>G	ENSP00000494887.1:p.Arg108Gly
ENST00000646822.1:n.1942A>G
ENST00000646940.1:n.1054A>G
ENST00000647286.1:n.978A>G
ENST00000399959.6:c.880A>G	ENSP00000382840.2:p.Arg294Gly
ENST00000441189.3:c.340+1704A>G	ENSP00000414281.2:n.340+1704A>G
ENST00000457138.6:c.832A>G	ENSP00000392494.2:p.Arg278Gly
ENST00000478993.5:c.880A>G	ENSP00000478443.1:p.Arg294Gly
ENST00000542215.5:n.928A>G
ENST00000625837.2:c.880A>G	ENSP00000486306.1:p.Arg294Gly
ENST00000626301.2:c.880A>G	ENSP00000486443.1:p.Arg294Gly
ENST00000629496.2:c.880A>G	ENSP00000487224.1:p.Arg294Gly
ENST00000629785.2:c.880A>G	ENSP00000486516.1:p.Arg294Gly
ENST00000630255.2:c.880A>G	ENSP00000486720.1:p.Arg294Gly
ENST00000630370.2:c.880A>G	ENSP00000487062.1:p.Arg294Gly
ENST00000630858.2:c.880A>G	ENSP00000486514.1:p.Arg294Gly
NM_001193416.2:c.880A>G	NP_001180345.1:p.Arg294Gly
NM_001193417.2:c.832A>G	NP_001180346.1:p.Arg278Gly
NM_001356.4:c.880A>G	NP_001347.3:p.Arg294Gly
NR_126093.1:n.1825A>G
XM_011543892.1:c.880A>G	XP_011542194.1:p.Arg294Gly
NM_001363819.1:c.322A>G	NP_001350748.1:p.Arg108Gly
XM_011543892.2:c.880A>G	XP_011542194.1:p.Arg294Gly
XM_017029313.1:c.322A>G	XP_016884802.1:p.Arg108Gly
NM_001193416.3:c.880A>G	NP_001180345.1:p.Arg294Gly
NM_001193417.3:c.832A>G	NP_001180346.1:p.Arg278Gly
NM_001356.5:c.880A>G MANE Select	NP_001347.3:p.Arg294Gly