Canonical Allele Identifier: CA412764733

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 803981
• ClinVar RCV Id: RCV000990794
• dbSNP Id: rs1602126980
• MyVariant Identifiers: chrX:g.41200758C>G (hg19) ; chrX:g.41341505C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41341505C>G , CM000685.2:g.41341505C>G	GRCh38
NC_000023.10:g.41200758C>G , CM000685.1:g.41200758C>G	GRCh37
NC_000023.9:g.41085702C>G	NCBI36
NG_012830.1:g.13108C>G
NG_012830.2:g.13108C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.305C>G	ENSP00000496052.2:p.Ser102Ter
ENST00000399959.7:c.170C>G	ENSP00000382840.3:p.Ser57Ter
ENST00000441189.4:c.173C>G	ENSP00000414281.3:p.Ser58Ter
ENST00000457138.7:c.125C>G	ENSP00000392494.2:p.Ser42Ter
ENST00000611546.2:n.479C>G
ENST00000615313.5:c.131C>G	ENSP00000496257.1:p.Ser44Ter
ENST00000622198.5:n.330C>G
ENST00000629496.3:c.173C>G	ENSP00000487224.1:p.Ser58Ter
ENST00000631641.2:n.216C>G
ENST00000642161.1:n.1494C>G
ENST00000642322.1:c.-386C>G	ENSP00000496052.1:n.-386C>G
ENST00000642424.1:c.-386C>G	ENSP00000496356.1:n.-386C>G
ENST00000642589.1:n.1563C>G
ENST00000642597.1:n.264C>G
ENST00000642624.1:n.63C>G
ENST00000642722.1:n.264C>G
ENST00000642763.1:n.186C>G
ENST00000642793.1:c.173C>G	ENSP00000493976.1:p.Ser58Ter
ENST00000643963.1:c.173C>G	ENSP00000495264.1:p.Ser58Ter
ENST00000644073.1:c.131C>G	ENSP00000493475.1:p.Ser44Ter
ENST00000644074.1:c.170C>G	ENSP00000496663.1:p.Ser57Ter
ENST00000644109.1:c.170C>G	ENSP00000494952.1:p.Ser57Ter
ENST00000644260.1:n.1C>G
ENST00000644307.1:n.264C>G
ENST00000644513.1:c.173C>G	ENSP00000493819.1:p.Ser58Ter
ENST00000644677.1:c.56C>G	ENSP00000496524.1:p.Ser19Ter
ENST00000644876.2:c.173C>G MANE Select	ENSP00000494040.1:p.Ser58Ter
ENST00000644958.1:n.1834C>G
ENST00000645080.1:c.*1395C>G	ENSP00000494767.1:n.*1395C>G
ENST00000645120.1:n.1668C>G
ENST00000645253.1:n.1596C>G
ENST00000645338.1:n.264C>G
ENST00000645380.1:n.1558C>G
ENST00000645561.1:n.264C>G
ENST00000645574.1:n.1484C>G
ENST00000645589.1:c.173C>G	ENSP00000494588.1:p.Ser58Ter
ENST00000645783.1:c.*1272C>G	ENSP00000494905.1:n.*1272C>G
ENST00000646107.1:c.56C>G	ENSP00000494518.1:p.Ser19Ter
ENST00000646122.1:c.173C>G	ENSP00000496222.1:p.Ser58Ter
ENST00000646196.1:n.264C>G
ENST00000646223.1:c.*166C>G	ENSP00000496043.1:n.*166C>G
ENST00000646319.1:c.173C>G	ENSP00000495377.1:p.Ser58Ter
ENST00000646390.1:n.1500C>G
ENST00000646627.1:c.-386C>G	ENSP00000493795.1:n.-386C>G
ENST00000646679.1:c.-386C>G	ENSP00000494887.1:n.-386C>G
ENST00000646822.1:n.264C>G
ENST00000646940.1:n.264C>G
ENST00000647219.1:n.158C>G
ENST00000399959.6:c.173C>G	ENSP00000382840.2:p.Ser58Ter
ENST00000441189.3:c.173C>G	ENSP00000414281.2:p.Ser58Ter
ENST00000457138.6:c.125C>G	ENSP00000392494.2:p.Ser42Ter
ENST00000478993.5:c.173C>G	ENSP00000478443.1:p.Ser58Ter
ENST00000542215.5:n.307C>G
ENST00000611546.1:n.305C>G
ENST00000615313.4:n.409C>G
ENST00000615742.4:c.173C>G	ENSP00000480647.1:p.Ser58Ter
ENST00000622198.4:n.274C>G
ENST00000625837.2:c.173C>G	ENSP00000486306.1:p.Ser58Ter
ENST00000626301.2:c.173C>G	ENSP00000486443.1:p.Ser58Ter
ENST00000629496.2:c.173C>G	ENSP00000487224.1:p.Ser58Ter
ENST00000629785.2:c.173C>G	ENSP00000486516.1:p.Ser58Ter
ENST00000630255.2:c.173C>G	ENSP00000486720.1:p.Ser58Ter
ENST00000630370.2:c.173C>G	ENSP00000487062.1:p.Ser58Ter
ENST00000630858.2:c.173C>G	ENSP00000486514.1:p.Ser58Ter
ENST00000631641.1:c.125C>G	ENSP00000488854.1:p.Ser42Ter
NM_001193416.2:c.173C>G	NP_001180345.1:p.Ser58Ter
NM_001193417.2:c.125C>G	NP_001180346.1:p.Ser42Ter
NM_001356.4:c.173C>G	NP_001347.3:p.Ser58Ter
NR_126093.1:n.1118C>G
XM_011543892.1:c.173C>G	XP_011542194.1:p.Ser58Ter
NM_001363819.1:c.-386C>G	NP_001350748.1:n.-386C>G
XM_011543892.2:c.173C>G	XP_011542194.1:p.Ser58Ter
XM_017029313.1:c.-386C>G	XP_016884802.1:n.-386C>G
NM_001193416.3:c.173C>G	NP_001180345.1:p.Ser58Ter
NM_001193417.3:c.125C>G	NP_001180346.1:p.Ser42Ter
NM_001356.5:c.173C>G MANE Select	NP_001347.3:p.Ser58Ter