Canonical Allele Identifier: CA412771076

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2430630
• ClinVar RCV Id: RCV003129163
• MyVariant Identifiers: chrX:g.41203598C>G (hg19) ; chrX:g.41344345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344345C>G , CM000685.2:g.41344345C>G	GRCh38
NC_000023.10:g.41203598C>G , CM000685.1:g.41203598C>G	GRCh37
NC_000023.9:g.41088542C>G	NCBI36
NG_012830.1:g.15948C>G
NG_012830.2:g.15948C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1103C>G	ENSP00000496052.2:p.Pro368Arg
ENST00000399959.7:c.968C>G	ENSP00000382840.3:p.Pro323Arg
ENST00000441189.4:c.872C>G	ENSP00000414281.3:p.Pro291Arg
ENST00000457138.7:c.923C>G	ENSP00000392494.2:p.Pro308Arg
ENST00000629496.3:c.971C>G	ENSP00000487224.1:p.Pro324Arg
ENST00000631641.2:n.1014C>G
ENST00000642161.1:n.3170C>G
ENST00000642322.1:c.413C>G	ENSP00000496052.1:p.Pro138Arg
ENST00000642424.1:c.413C>G	ENSP00000496356.1:p.Pro138Arg
ENST00000642589.1:n.4293C>G
ENST00000642597.1:n.1145C>G
ENST00000642687.1:n.1004C>G
ENST00000642722.1:n.1804C>G
ENST00000642763.1:n.1862C>G
ENST00000642793.1:c.*420C>G	ENSP00000493976.1:n.*420C>G
ENST00000642801.1:n.620C>G
ENST00000643820.1:n.247C>G
ENST00000643963.1:c.*253C>G	ENSP00000495264.1:n.*253C>G
ENST00000644073.1:c.929C>G	ENSP00000493475.1:p.Pro310Arg
ENST00000644074.1:c.968C>G	ENSP00000496663.1:p.Pro323Arg
ENST00000644109.1:c.968C>G	ENSP00000494952.1:p.Pro323Arg
ENST00000644307.1:n.1062C>G
ENST00000644513.1:c.971C>G	ENSP00000493819.1:p.Pro324Arg
ENST00000644677.1:c.854C>G	ENSP00000496524.1:p.Pro285Arg
ENST00000644876.2:c.971C>G MANE Select	ENSP00000494040.1:p.Pro324Arg
ENST00000644958.1:n.2632C>G
ENST00000645080.1:c.*2193C>G	ENSP00000494767.1:n.*2193C>G
ENST00000645120.1:n.2466C>G
ENST00000645338.1:n.1062C>G
ENST00000645380.1:n.2356C>G
ENST00000645561.1:n.2147C>G
ENST00000645574.1:n.3835C>G
ENST00000645589.1:c.971C>G	ENSP00000494588.1:p.Pro324Arg
ENST00000646093.1:n.155C>G
ENST00000646107.1:c.854C>G	ENSP00000494518.1:p.Pro285Arg
ENST00000646122.1:c.971C>G	ENSP00000496222.1:p.Pro324Arg
ENST00000646196.1:n.1940C>G
ENST00000646223.1:c.*964C>G	ENSP00000496043.1:n.*964C>G
ENST00000646319.1:c.971C>G	ENSP00000495377.1:p.Pro324Arg
ENST00000646390.1:n.3259C>G
ENST00000646627.1:c.413C>G	ENSP00000493795.1:p.Pro138Arg
ENST00000646679.1:c.413C>G	ENSP00000494887.1:p.Pro138Arg
ENST00000646822.1:n.2033C>G
ENST00000646940.1:n.1145C>G
ENST00000647286.1:n.1069C>G
ENST00000399959.6:c.971C>G	ENSP00000382840.2:p.Pro324Arg
ENST00000441189.3:c.340+1795C>G	ENSP00000414281.2:n.340+1795C>G
ENST00000457138.6:c.923C>G	ENSP00000392494.2:p.Pro308Arg
ENST00000478993.5:c.971C>G	ENSP00000478443.1:p.Pro324Arg
ENST00000542215.5:n.1019C>G
ENST00000625837.2:c.971C>G	ENSP00000486306.1:p.Pro324Arg
ENST00000626301.2:c.971C>G	ENSP00000486443.1:p.Pro324Arg
ENST00000629496.2:c.971C>G	ENSP00000487224.1:p.Pro324Arg
ENST00000629785.2:c.971C>G	ENSP00000486516.1:p.Pro324Arg
ENST00000630255.2:c.971C>G	ENSP00000486720.1:p.Pro324Arg
ENST00000630370.2:c.971C>G	ENSP00000487062.1:p.Pro324Arg
ENST00000630858.2:c.971C>G	ENSP00000486514.1:p.Pro324Arg
NM_001193416.2:c.971C>G	NP_001180345.1:p.Pro324Arg
NM_001193417.2:c.923C>G	NP_001180346.1:p.Pro308Arg
NM_001356.4:c.971C>G	NP_001347.3:p.Pro324Arg
NR_126093.1:n.1916C>G
XM_011543892.1:c.971C>G	XP_011542194.1:p.Pro324Arg
NM_001363819.1:c.413C>G	NP_001350748.1:p.Pro138Arg
XM_011543892.2:c.971C>G	XP_011542194.1:p.Pro324Arg
XM_017029313.1:c.413C>G	XP_016884802.1:p.Pro138Arg
NM_001193416.3:c.971C>G	NP_001180345.1:p.Pro324Arg
NM_001193417.3:c.923C>G	NP_001180346.1:p.Pro308Arg
NM_001356.5:c.971C>G MANE Select	NP_001347.3:p.Pro324Arg