Canonical Allele Identifier: CA516347378

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41203608A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344355A>C , CM000685.2:g.41344355A>C	GRCh38
NC_000023.10:g.41203608A>C , CM000685.1:g.41203608A>C	GRCh37
NC_000023.9:g.41088552A>C	NCBI36
NG_012830.1:g.15958A>C
NG_012830.2:g.15958A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1113A>C	ENSP00000496052.2:p.Leu371=
ENST00000399959.7:c.978A>C	ENSP00000382840.3:p.Leu326=
ENST00000441189.4:c.882A>C	ENSP00000414281.3:p.Leu294=
ENST00000457138.7:c.933A>C	ENSP00000392494.2:p.Leu311=
ENST00000629496.3:c.981A>C	ENSP00000487224.1:p.Leu327=
ENST00000631641.2:n.1024A>C
ENST00000642161.1:n.3180A>C
ENST00000642322.1:c.423A>C	ENSP00000496052.1:p.Leu141=
ENST00000642424.1:c.423A>C	ENSP00000496356.1:p.Leu141=
ENST00000642589.1:n.4303A>C
ENST00000642597.1:n.1155A>C
ENST00000642687.1:n.1014A>C
ENST00000642722.1:n.1814A>C
ENST00000642763.1:n.1872A>C
ENST00000642793.1:c.*430A>C	ENSP00000493976.1:n.*430A>C
ENST00000642801.1:n.630A>C
ENST00000643820.1:n.257A>C
ENST00000643963.1:c.*263A>C	ENSP00000495264.1:n.*263A>C
ENST00000644073.1:c.939A>C	ENSP00000493475.1:p.Leu313=
ENST00000644074.1:c.978A>C	ENSP00000496663.1:p.Leu326=
ENST00000644109.1:c.978A>C	ENSP00000494952.1:p.Leu326=
ENST00000644307.1:n.1072A>C
ENST00000644513.1:c.981A>C	ENSP00000493819.1:p.Leu327=
ENST00000644677.1:c.864A>C	ENSP00000496524.1:p.Leu288=
ENST00000644876.2:c.981A>C MANE Select	ENSP00000494040.1:p.Leu327=
ENST00000644958.1:n.2642A>C
ENST00000645080.1:c.*2203A>C	ENSP00000494767.1:n.*2203A>C
ENST00000645120.1:n.2476A>C
ENST00000645338.1:n.1072A>C
ENST00000645380.1:n.2366A>C
ENST00000645561.1:n.2157A>C
ENST00000645574.1:n.3845A>C
ENST00000645589.1:c.981A>C	ENSP00000494588.1:p.Leu327=
ENST00000646093.1:n.165A>C
ENST00000646107.1:c.864A>C	ENSP00000494518.1:p.Leu288=
ENST00000646122.1:c.981A>C	ENSP00000496222.1:p.Leu327=
ENST00000646196.1:n.1950A>C
ENST00000646223.1:c.*974A>C	ENSP00000496043.1:n.*974A>C
ENST00000646319.1:c.981A>C	ENSP00000495377.1:p.Leu327=
ENST00000646390.1:n.3269A>C
ENST00000646627.1:c.423A>C	ENSP00000493795.1:p.Leu141=
ENST00000646679.1:c.423A>C	ENSP00000494887.1:p.Leu141=
ENST00000646822.1:n.2043A>C
ENST00000646940.1:n.1155A>C
ENST00000647286.1:n.1079A>C
ENST00000399959.6:c.981A>C	ENSP00000382840.2:p.Leu327=
ENST00000441189.3:c.340+1805A>C	ENSP00000414281.2:n.340+1805A>C
ENST00000457138.6:c.933A>C	ENSP00000392494.2:p.Leu311=
ENST00000478993.5:c.981A>C	ENSP00000478443.1:p.Leu327=
ENST00000542215.5:n.1029A>C
ENST00000625837.2:c.981A>C	ENSP00000486306.1:p.Leu327=
ENST00000626301.2:c.981A>C	ENSP00000486443.1:p.Leu327=
ENST00000629496.2:c.981A>C	ENSP00000487224.1:p.Leu327=
ENST00000629785.2:c.981A>C	ENSP00000486516.1:p.Leu327=
ENST00000630255.2:c.981A>C	ENSP00000486720.1:p.Leu327=
ENST00000630370.2:c.981A>C	ENSP00000487062.1:p.Leu327=
ENST00000630858.2:c.981A>C	ENSP00000486514.1:p.Leu327=
NM_001193416.2:c.981A>C	NP_001180345.1:p.Leu327=
NM_001193417.2:c.933A>C	NP_001180346.1:p.Leu311=
NM_001356.4:c.981A>C	NP_001347.3:p.Leu327=
NR_126093.1:n.1926A>C
XM_011543892.1:c.981A>C	XP_011542194.1:p.Leu327=
NM_001363819.1:c.423A>C	NP_001350748.1:p.Leu141=
XM_011543892.2:c.981A>C	XP_011542194.1:p.Leu327=
XM_017029313.1:c.423A>C	XP_016884802.1:p.Leu141=
NM_001193416.3:c.981A>C	NP_001180345.1:p.Leu327=
NM_001193417.3:c.933A>C	NP_001180346.1:p.Leu311=
NM_001356.5:c.981A>C MANE Select	NP_001347.3:p.Leu327=