Canonical Allele Identifier: CA412774121

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41205491C>T (hg19) ; chrX:g.41346238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346238C>T , CM000685.2:g.41346238C>T	GRCh38
NC_000023.10:g.41205491C>T , CM000685.1:g.41205491C>T	GRCh37
NC_000023.9:g.41090435C>T	NCBI36
NG_012830.1:g.17841C>T
NG_012830.2:g.17841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1457C>T	ENSP00000496052.2:p.Ser486Leu
ENST00000399959.7:c.1322C>T	ENSP00000382840.3:p.Ser441Leu
ENST00000441189.4:c.1226C>T	ENSP00000414281.3:p.Ser409Leu
ENST00000457138.7:c.1277C>T	ENSP00000392494.2:p.Ser426Leu
ENST00000616050.3:c.73C>T
ENST00000629496.3:c.1325C>T	ENSP00000487224.1:p.Ser442Leu
ENST00000642161.1:n.3524C>T
ENST00000642322.1:c.767C>T	ENSP00000496052.1:p.Ser256Leu
ENST00000642424.1:c.767C>T	ENSP00000496356.1:p.Ser256Leu
ENST00000642589.1:n.4647C>T
ENST00000642597.1:n.1499C>T
ENST00000642687.1:n.1358C>T
ENST00000642722.1:n.2158C>T
ENST00000642763.1:n.2216C>T
ENST00000642793.1:c.*774C>T	ENSP00000493976.1:n.*774C>T
ENST00000642801.1:n.974C>T
ENST00000643820.1:n.601C>T
ENST00000643963.1:c.*607C>T	ENSP00000495264.1:n.*607C>T
ENST00000644073.1:c.1283C>T	ENSP00000493475.1:p.Ser428Leu
ENST00000644074.1:c.1322C>T	ENSP00000496663.1:p.Ser441Leu
ENST00000644109.1:c.1487C>T	ENSP00000494952.1:p.Ser496Leu
ENST00000644307.1:n.1495C>T
ENST00000644513.1:c.1325C>T	ENSP00000493819.1:p.Ser442Leu
ENST00000644677.1:c.1208C>T	ENSP00000496524.1:p.Ser403Leu
ENST00000644876.2:c.1325C>T MANE Select	ENSP00000494040.1:p.Ser442Leu
ENST00000644958.1:n.2986C>T
ENST00000645080.1:c.*2547C>T	ENSP00000494767.1:n.*2547C>T
ENST00000645120.1:n.2820C>T
ENST00000645338.1:n.1495C>T
ENST00000645380.1:n.2789C>T
ENST00000645561.1:n.2501C>T
ENST00000645574.1:n.4189C>T
ENST00000645589.1:c.1325C>T	ENSP00000494588.1:p.Ser442Leu
ENST00000646093.1:n.509C>T
ENST00000646107.1:c.1208C>T	ENSP00000494518.1:p.Ser403Leu
ENST00000646122.1:c.1325C>T	ENSP00000496222.1:p.Ser442Leu
ENST00000646196.1:n.2294C>T
ENST00000646223.1:c.*1318C>T	ENSP00000496043.1:n.*1318C>T
ENST00000646319.1:c.1325C>T	ENSP00000495377.1:p.Ser442Leu
ENST00000646390.1:n.3613C>T
ENST00000646627.1:c.767C>T	ENSP00000493795.1:p.Ser256Leu
ENST00000646679.1:c.767C>T	ENSP00000494887.1:p.Ser256Leu
ENST00000646822.1:n.2387C>T
ENST00000646940.1:n.1499C>T
ENST00000647286.1:n.1423C>T
ENST00000647477.1:n.64C>T
ENST00000399959.6:c.1325C>T	ENSP00000382840.2:p.Ser442Leu
ENST00000441189.3:c.341-1402C>T	ENSP00000414281.2:n.341-1402C>T
ENST00000457138.6:c.1277C>T	ENSP00000392494.2:p.Ser426Leu
ENST00000478993.5:c.1325C>T	ENSP00000478443.1:p.Ser442Leu
ENST00000542215.5:n.1373C>T
ENST00000625837.2:c.1325C>T	ENSP00000486306.1:p.Ser442Leu
ENST00000626301.2:c.1325C>T	ENSP00000486443.1:p.Ser442Leu
ENST00000629496.2:c.1325C>T	ENSP00000487224.1:p.Ser442Leu
ENST00000629785.2:c.1325C>T	ENSP00000486516.1:p.Ser442Leu
ENST00000630255.2:c.1325C>T	ENSP00000486720.1:p.Ser442Leu
ENST00000630370.2:c.1325C>T	ENSP00000487062.1:p.Ser442Leu
ENST00000630858.2:c.1325C>T	ENSP00000486514.1:p.Ser442Leu
NM_001193416.2:c.1325C>T	NP_001180345.1:p.Ser442Leu
NM_001193417.2:c.1277C>T	NP_001180346.1:p.Ser426Leu
NM_001356.4:c.1325C>T	NP_001347.3:p.Ser442Leu
NR_126093.1:n.2270C>T
XM_011543892.1:c.1325C>T	XP_011542194.1:p.Ser442Leu
NM_001363819.1:c.767C>T	NP_001350748.1:p.Ser256Leu
XM_011543892.2:c.1325C>T	XP_011542194.1:p.Ser442Leu
XM_017029313.1:c.767C>T	XP_016884802.1:p.Ser256Leu
NM_001193416.3:c.1325C>T	NP_001180345.1:p.Ser442Leu
NM_001193417.3:c.1277C>T	NP_001180346.1:p.Ser426Leu
NM_001356.5:c.1325C>T MANE Select	NP_001347.3:p.Ser442Leu