Canonical Allele Identifier: CA412771455

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 872857
• ClinVar RCV Id: RCV001093534
• dbSNP Id: rs2063908570
• MyVariant Identifiers: chrX:g.41204534G>A (hg19) ; chrX:g.41345281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345281G>A , CM000685.2:g.41345281G>A	GRCh38
NC_000023.10:g.41204534G>A , CM000685.1:g.41204534G>A	GRCh37
NC_000023.9:g.41089478G>A	NCBI36
NG_012830.1:g.16884G>A
NG_012830.2:g.16884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1259G>A	ENSP00000496052.2:p.Arg420His
ENST00000399959.7:c.1124G>A	ENSP00000382840.3:p.Arg375His
ENST00000441189.4:c.1028G>A	ENSP00000414281.3:p.Arg343His
ENST00000457138.7:c.1079G>A	ENSP00000392494.2:p.Arg360His
ENST00000629496.3:c.1127G>A	ENSP00000487224.1:p.Arg376His
ENST00000642161.1:n.3326G>A
ENST00000642322.1:c.569G>A	ENSP00000496052.1:p.Arg190His
ENST00000642424.1:c.569G>A	ENSP00000496356.1:p.Arg190His
ENST00000642589.1:n.4449G>A
ENST00000642597.1:n.1301G>A
ENST00000642687.1:n.1160G>A
ENST00000642722.1:n.1960G>A
ENST00000642763.1:n.2018G>A
ENST00000642793.1:c.*576G>A	ENSP00000493976.1:n.*576G>A
ENST00000642801.1:n.776G>A
ENST00000643820.1:n.403G>A
ENST00000643963.1:c.*409G>A	ENSP00000495264.1:n.*409G>A
ENST00000644073.1:c.1085G>A	ENSP00000493475.1:p.Arg362His
ENST00000644074.1:c.1124G>A	ENSP00000496663.1:p.Arg375His
ENST00000644109.1:c.1289G>A	ENSP00000494952.1:p.Arg430His
ENST00000644307.1:n.1218G>A
ENST00000644513.1:c.1127G>A	ENSP00000493819.1:p.Arg376His
ENST00000644677.1:c.1010G>A	ENSP00000496524.1:p.Arg337His
ENST00000644876.2:c.1127G>A MANE Select	ENSP00000494040.1:p.Arg376His
ENST00000644958.1:n.2788G>A
ENST00000645080.1:c.*2349G>A	ENSP00000494767.1:n.*2349G>A
ENST00000645120.1:n.2622G>A
ENST00000645338.1:n.1218G>A
ENST00000645380.1:n.2512G>A
ENST00000645561.1:n.2303G>A
ENST00000645574.1:n.3991G>A
ENST00000645589.1:c.1127G>A	ENSP00000494588.1:p.Arg376His
ENST00000646093.1:n.311G>A
ENST00000646107.1:c.1010G>A	ENSP00000494518.1:p.Arg337His
ENST00000646122.1:c.1127G>A	ENSP00000496222.1:p.Arg376His
ENST00000646196.1:n.2096G>A
ENST00000646223.1:c.*1120G>A	ENSP00000496043.1:n.*1120G>A
ENST00000646319.1:c.1127G>A	ENSP00000495377.1:p.Arg376His
ENST00000646390.1:n.3415G>A
ENST00000646627.1:c.569G>A	ENSP00000493795.1:p.Arg190His
ENST00000646679.1:c.569G>A	ENSP00000494887.1:p.Arg190His
ENST00000646822.1:n.2189G>A
ENST00000646940.1:n.1301G>A
ENST00000647286.1:n.1225G>A
ENST00000399959.6:c.1127G>A	ENSP00000382840.2:p.Arg376His
ENST00000441189.3:c.341-2359G>A	ENSP00000414281.2:n.341-2359G>A
ENST00000457138.6:c.1079G>A	ENSP00000392494.2:p.Arg360His
ENST00000478993.5:c.1127G>A	ENSP00000478443.1:p.Arg376His
ENST00000542215.5:n.1175G>A
ENST00000625837.2:c.1127G>A	ENSP00000486306.1:p.Arg376His
ENST00000626301.2:c.1127G>A	ENSP00000486443.1:p.Arg376His
ENST00000629496.2:c.1127G>A	ENSP00000487224.1:p.Arg376His
ENST00000629785.2:c.1127G>A	ENSP00000486516.1:p.Arg376His
ENST00000630255.2:c.1127G>A	ENSP00000486720.1:p.Arg376His
ENST00000630370.2:c.1127G>A	ENSP00000487062.1:p.Arg376His
ENST00000630858.2:c.1127G>A	ENSP00000486514.1:p.Arg376His
NM_001193416.2:c.1127G>A	NP_001180345.1:p.Arg376His
NM_001193417.2:c.1079G>A	NP_001180346.1:p.Arg360His
NM_001356.4:c.1127G>A	NP_001347.3:p.Arg376His
NR_126093.1:n.2072G>A
XM_011543892.1:c.1127G>A	XP_011542194.1:p.Arg376His
NM_001363819.1:c.569G>A	NP_001350748.1:p.Arg190His
XM_011543892.2:c.1127G>A	XP_011542194.1:p.Arg376His
XM_017029313.1:c.569G>A	XP_016884802.1:p.Arg190His
NM_001193416.3:c.1127G>A	NP_001180345.1:p.Arg376His
NM_001193417.3:c.1079G>A	NP_001180346.1:p.Arg360His
NM_001356.5:c.1127G>A MANE Select	NP_001347.3:p.Arg376His