Canonical Allele Identifier: CA412774977

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 3024277
• ClinVar RCV Id: RCV003883323
• MyVariant Identifiers: chrX:g.41205564C>G (hg19) ; chrX:g.41346311C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346311C>G , CM000685.2:g.41346311C>G	GRCh38
NC_000023.10:g.41205564C>G , CM000685.1:g.41205564C>G	GRCh37
NC_000023.9:g.41090508C>G	NCBI36
NG_012830.1:g.17914C>G
NG_012830.2:g.17914C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1530C>G	ENSP00000496052.2:p.Tyr510Ter
ENST00000399959.7:c.1395C>G	ENSP00000382840.3:p.Tyr465Ter
ENST00000441189.4:c.1299C>G	ENSP00000414281.3:p.Tyr433Ter
ENST00000457138.7:c.1350C>G	ENSP00000392494.2:p.Tyr450Ter
ENST00000616050.3:c.146C>G
ENST00000629496.3:c.1398C>G	ENSP00000487224.1:p.Tyr466Ter
ENST00000642161.1:n.3597C>G
ENST00000642322.1:c.840C>G	ENSP00000496052.1:p.Tyr280Ter
ENST00000642424.1:c.840C>G	ENSP00000496356.1:p.Tyr280Ter
ENST00000642589.1:n.4720C>G
ENST00000642597.1:n.1572C>G
ENST00000642687.1:n.1431C>G
ENST00000642722.1:n.2231C>G
ENST00000642763.1:n.2289C>G
ENST00000642793.1:c.*847C>G	ENSP00000493976.1:n.*847C>G
ENST00000642801.1:n.1047C>G
ENST00000643820.1:n.674C>G
ENST00000643963.1:c.*680C>G	ENSP00000495264.1:n.*680C>G
ENST00000644073.1:c.1356C>G	ENSP00000493475.1:p.Tyr452Ter
ENST00000644074.1:c.1395C>G	ENSP00000496663.1:p.Tyr465Ter
ENST00000644109.1:c.1560C>G	ENSP00000494952.1:p.Tyr520Ter
ENST00000644307.1:n.1568C>G
ENST00000644513.1:c.1398C>G	ENSP00000493819.1:p.Tyr466Ter
ENST00000644677.1:c.1281C>G	ENSP00000496524.1:p.Tyr427Ter
ENST00000644876.2:c.1398C>G MANE Select	ENSP00000494040.1:p.Tyr466Ter
ENST00000644958.1:n.3059C>G
ENST00000645080.1:c.*2620C>G	ENSP00000494767.1:n.*2620C>G
ENST00000645120.1:n.2893C>G
ENST00000645338.1:n.1568C>G
ENST00000645380.1:n.2862C>G
ENST00000645561.1:n.2574C>G
ENST00000645574.1:n.4262C>G
ENST00000645589.1:c.1398C>G	ENSP00000494588.1:p.Tyr466Ter
ENST00000646107.1:c.1281C>G	ENSP00000494518.1:p.Tyr427Ter
ENST00000646122.1:c.1398C>G	ENSP00000496222.1:p.Tyr466Ter
ENST00000646196.1:n.2367C>G
ENST00000646223.1:c.*1391C>G	ENSP00000496043.1:n.*1391C>G
ENST00000646319.1:c.1398C>G	ENSP00000495377.1:p.Tyr466Ter
ENST00000646390.1:n.3686C>G
ENST00000646627.1:c.840C>G	ENSP00000493795.1:p.Tyr280Ter
ENST00000646679.1:c.840C>G	ENSP00000494887.1:p.Tyr280Ter
ENST00000646822.1:n.2460C>G
ENST00000646940.1:n.1572C>G
ENST00000647286.1:n.1496C>G
ENST00000647477.1:n.137C>G
ENST00000399959.6:c.1398C>G	ENSP00000382840.2:p.Tyr466Ter
ENST00000441189.3:c.341-1329C>G	ENSP00000414281.2:n.341-1329C>G
ENST00000457138.6:c.1350C>G	ENSP00000392494.2:p.Tyr450Ter
ENST00000478993.5:c.1398C>G	ENSP00000478443.1:p.Tyr466Ter
ENST00000542215.5:n.1446C>G
ENST00000625837.2:c.1398C>G	ENSP00000486306.1:p.Tyr466Ter
ENST00000626301.2:c.1398C>G	ENSP00000486443.1:p.Tyr466Ter
ENST00000629496.2:c.1398C>G	ENSP00000487224.1:p.Tyr466Ter
ENST00000629785.2:c.1398C>G	ENSP00000486516.1:p.Tyr466Ter
ENST00000630255.2:c.1398C>G	ENSP00000486720.1:p.Tyr466Ter
ENST00000630370.2:c.1398C>G	ENSP00000487062.1:p.Tyr466Ter
ENST00000630858.2:c.1398C>G	ENSP00000486514.1:p.Tyr466Ter
NM_001193416.2:c.1398C>G	NP_001180345.1:p.Tyr466Ter
NM_001193417.2:c.1350C>G	NP_001180346.1:p.Tyr450Ter
NM_001356.4:c.1398C>G	NP_001347.3:p.Tyr466Ter
NR_126093.1:n.2343C>G
XM_011543892.1:c.1398C>G	XP_011542194.1:p.Tyr466Ter
NM_001363819.1:c.840C>G	NP_001350748.1:p.Tyr280Ter
XM_011543892.2:c.1398C>G	XP_011542194.1:p.Tyr466Ter
XM_017029313.1:c.840C>G	XP_016884802.1:p.Tyr280Ter
NM_001193416.3:c.1398C>G	NP_001180345.1:p.Tyr466Ter
NM_001193417.3:c.1350C>G	NP_001180346.1:p.Tyr450Ter
NM_001356.5:c.1398C>G MANE Select	NP_001347.3:p.Tyr466Ter