Canonical Allele Identifier: CA412774524

Gene: DDX3X

Linked Data

• gnomAD v4: X-41346280-C-G
• MyVariant Identifiers: chrX:g.41205533C>G (hg19) ; chrX:g.41346280C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346280C>G , CM000685.2:g.41346280C>G	GRCh38
NC_000023.10:g.41205533C>G , CM000685.1:g.41205533C>G	GRCh37
NC_000023.9:g.41090477C>G	NCBI36
NG_012830.1:g.17883C>G
NG_012830.2:g.17883C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1499C>G	ENSP00000496052.2:p.Ser500Cys
ENST00000399959.7:c.1364C>G	ENSP00000382840.3:p.Ser455Cys
ENST00000441189.4:c.1268C>G	ENSP00000414281.3:p.Ser423Cys
ENST00000457138.7:c.1319C>G	ENSP00000392494.2:p.Ser440Cys
ENST00000616050.3:c.115C>G
ENST00000629496.3:c.1367C>G	ENSP00000487224.1:p.Ser456Cys
ENST00000642161.1:n.3566C>G
ENST00000642322.1:c.809C>G	ENSP00000496052.1:p.Ser270Cys
ENST00000642424.1:c.809C>G	ENSP00000496356.1:p.Ser270Cys
ENST00000642589.1:n.4689C>G
ENST00000642597.1:n.1541C>G
ENST00000642687.1:n.1400C>G
ENST00000642722.1:n.2200C>G
ENST00000642763.1:n.2258C>G
ENST00000642793.1:c.*816C>G	ENSP00000493976.1:n.*816C>G
ENST00000642801.1:n.1016C>G
ENST00000643820.1:n.643C>G
ENST00000643963.1:c.*649C>G	ENSP00000495264.1:n.*649C>G
ENST00000644073.1:c.1325C>G	ENSP00000493475.1:p.Ser442Cys
ENST00000644074.1:c.1364C>G	ENSP00000496663.1:p.Ser455Cys
ENST00000644109.1:c.1529C>G	ENSP00000494952.1:p.Ser510Cys
ENST00000644307.1:n.1537C>G
ENST00000644513.1:c.1367C>G	ENSP00000493819.1:p.Ser456Cys
ENST00000644677.1:c.1250C>G	ENSP00000496524.1:p.Ser417Cys
ENST00000644876.2:c.1367C>G MANE Select	ENSP00000494040.1:p.Ser456Cys
ENST00000644958.1:n.3028C>G
ENST00000645080.1:c.*2589C>G	ENSP00000494767.1:n.*2589C>G
ENST00000645120.1:n.2862C>G
ENST00000645338.1:n.1537C>G
ENST00000645380.1:n.2831C>G
ENST00000645561.1:n.2543C>G
ENST00000645574.1:n.4231C>G
ENST00000645589.1:c.1367C>G	ENSP00000494588.1:p.Ser456Cys
ENST00000646107.1:c.1250C>G	ENSP00000494518.1:p.Ser417Cys
ENST00000646122.1:c.1367C>G	ENSP00000496222.1:p.Ser456Cys
ENST00000646196.1:n.2336C>G
ENST00000646223.1:c.*1360C>G	ENSP00000496043.1:n.*1360C>G
ENST00000646319.1:c.1367C>G	ENSP00000495377.1:p.Ser456Cys
ENST00000646390.1:n.3655C>G
ENST00000646627.1:c.809C>G	ENSP00000493795.1:p.Ser270Cys
ENST00000646679.1:c.809C>G	ENSP00000494887.1:p.Ser270Cys
ENST00000646822.1:n.2429C>G
ENST00000646940.1:n.1541C>G
ENST00000647286.1:n.1465C>G
ENST00000647477.1:n.106C>G
ENST00000399959.6:c.1367C>G	ENSP00000382840.2:p.Ser456Cys
ENST00000441189.3:c.341-1360C>G	ENSP00000414281.2:n.341-1360C>G
ENST00000457138.6:c.1319C>G	ENSP00000392494.2:p.Ser440Cys
ENST00000478993.5:c.1367C>G	ENSP00000478443.1:p.Ser456Cys
ENST00000542215.5:n.1415C>G
ENST00000625837.2:c.1367C>G	ENSP00000486306.1:p.Ser456Cys
ENST00000626301.2:c.1367C>G	ENSP00000486443.1:p.Ser456Cys
ENST00000629496.2:c.1367C>G	ENSP00000487224.1:p.Ser456Cys
ENST00000629785.2:c.1367C>G	ENSP00000486516.1:p.Ser456Cys
ENST00000630255.2:c.1367C>G	ENSP00000486720.1:p.Ser456Cys
ENST00000630370.2:c.1367C>G	ENSP00000487062.1:p.Ser456Cys
ENST00000630858.2:c.1367C>G	ENSP00000486514.1:p.Ser456Cys
NM_001193416.2:c.1367C>G	NP_001180345.1:p.Ser456Cys
NM_001193417.2:c.1319C>G	NP_001180346.1:p.Ser440Cys
NM_001356.4:c.1367C>G	NP_001347.3:p.Ser456Cys
NR_126093.1:n.2312C>G
XM_011543892.1:c.1367C>G	XP_011542194.1:p.Ser456Cys
NM_001363819.1:c.809C>G	NP_001350748.1:p.Ser270Cys
XM_011543892.2:c.1367C>G	XP_011542194.1:p.Ser456Cys
XM_017029313.1:c.809C>G	XP_016884802.1:p.Ser270Cys
NM_001193416.3:c.1367C>G	NP_001180345.1:p.Ser456Cys
NM_001193417.3:c.1319C>G	NP_001180346.1:p.Ser440Cys
NM_001356.5:c.1367C>G MANE Select	NP_001347.3:p.Ser456Cys