Canonical Allele Identifier: CA516347377

Gene: DDX3X

Linked Data

• dbSNP Id: rs1555953550
• MyVariant Identifiers: chrX:g.41203606C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344353C>T , CM000685.2:g.41344353C>T	GRCh38
NC_000023.10:g.41203606C>T , CM000685.1:g.41203606C>T	GRCh37
NC_000023.9:g.41088550C>T	NCBI36
NG_012830.1:g.15956C>T
NG_012830.2:g.15956C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1111C>T	ENSP00000496052.2:p.Leu371=
ENST00000399959.7:c.976C>T	ENSP00000382840.3:p.Leu326=
ENST00000441189.4:c.880C>T	ENSP00000414281.3:p.Leu294=
ENST00000457138.7:c.931C>T	ENSP00000392494.2:p.Leu311=
ENST00000629496.3:c.979C>T	ENSP00000487224.1:p.Leu327=
ENST00000631641.2:n.1022C>T
ENST00000642161.1:n.3178C>T
ENST00000642322.1:c.421C>T	ENSP00000496052.1:p.Leu141=
ENST00000642424.1:c.421C>T	ENSP00000496356.1:p.Leu141=
ENST00000642589.1:n.4301C>T
ENST00000642597.1:n.1153C>T
ENST00000642687.1:n.1012C>T
ENST00000642722.1:n.1812C>T
ENST00000642763.1:n.1870C>T
ENST00000642793.1:c.*428C>T	ENSP00000493976.1:n.*428C>T
ENST00000642801.1:n.628C>T
ENST00000643820.1:n.255C>T
ENST00000643963.1:c.*261C>T	ENSP00000495264.1:n.*261C>T
ENST00000644073.1:c.937C>T	ENSP00000493475.1:p.Leu313=
ENST00000644074.1:c.976C>T	ENSP00000496663.1:p.Leu326=
ENST00000644109.1:c.976C>T	ENSP00000494952.1:p.Leu326=
ENST00000644307.1:n.1070C>T
ENST00000644513.1:c.979C>T	ENSP00000493819.1:p.Leu327=
ENST00000644677.1:c.862C>T	ENSP00000496524.1:p.Leu288=
ENST00000644876.2:c.979C>T MANE Select	ENSP00000494040.1:p.Leu327=
ENST00000644958.1:n.2640C>T
ENST00000645080.1:c.*2201C>T	ENSP00000494767.1:n.*2201C>T
ENST00000645120.1:n.2474C>T
ENST00000645338.1:n.1070C>T
ENST00000645380.1:n.2364C>T
ENST00000645561.1:n.2155C>T
ENST00000645574.1:n.3843C>T
ENST00000645589.1:c.979C>T	ENSP00000494588.1:p.Leu327=
ENST00000646093.1:n.163C>T
ENST00000646107.1:c.862C>T	ENSP00000494518.1:p.Leu288=
ENST00000646122.1:c.979C>T	ENSP00000496222.1:p.Leu327=
ENST00000646196.1:n.1948C>T
ENST00000646223.1:c.*972C>T	ENSP00000496043.1:n.*972C>T
ENST00000646319.1:c.979C>T	ENSP00000495377.1:p.Leu327=
ENST00000646390.1:n.3267C>T
ENST00000646627.1:c.421C>T	ENSP00000493795.1:p.Leu141=
ENST00000646679.1:c.421C>T	ENSP00000494887.1:p.Leu141=
ENST00000646822.1:n.2041C>T
ENST00000646940.1:n.1153C>T
ENST00000647286.1:n.1077C>T
ENST00000399959.6:c.979C>T	ENSP00000382840.2:p.Leu327=
ENST00000441189.3:c.340+1803C>T	ENSP00000414281.2:n.340+1803C>T
ENST00000457138.6:c.931C>T	ENSP00000392494.2:p.Leu311=
ENST00000478993.5:c.979C>T	ENSP00000478443.1:p.Leu327=
ENST00000542215.5:n.1027C>T
ENST00000625837.2:c.979C>T	ENSP00000486306.1:p.Leu327=
ENST00000626301.2:c.979C>T	ENSP00000486443.1:p.Leu327=
ENST00000629496.2:c.979C>T	ENSP00000487224.1:p.Leu327=
ENST00000629785.2:c.979C>T	ENSP00000486516.1:p.Leu327=
ENST00000630255.2:c.979C>T	ENSP00000486720.1:p.Leu327=
ENST00000630370.2:c.979C>T	ENSP00000487062.1:p.Leu327=
ENST00000630858.2:c.979C>T	ENSP00000486514.1:p.Leu327=
NM_001193416.2:c.979C>T	NP_001180345.1:p.Leu327=
NM_001193417.2:c.931C>T	NP_001180346.1:p.Leu311=
NM_001356.4:c.979C>T	NP_001347.3:p.Leu327=
NR_126093.1:n.1924C>T
XM_011543892.1:c.979C>T	XP_011542194.1:p.Leu327=
NM_001363819.1:c.421C>T	NP_001350748.1:p.Leu141=
XM_011543892.2:c.979C>T	XP_011542194.1:p.Leu327=
XM_017029313.1:c.421C>T	XP_016884802.1:p.Leu141=
NM_001193416.3:c.979C>T	NP_001180345.1:p.Leu327=
NM_001193417.3:c.931C>T	NP_001180346.1:p.Leu311=
NM_001356.5:c.979C>T MANE Select	NP_001347.3:p.Leu327=