Canonical Allele Identifier: CA412775876
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 548024
ClinVar RCV Id: RCV000660645
dbSNP Id: rs1555954154

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346399G>A , CM000685.2:g.41346399G>A GRCh38
NC_000023.10:g.41205652G>A , CM000685.1:g.41205652G>A GRCh37
NC_000023.9:g.41090596G>A NCBI36
NG_012830.1:g.18002G>A
NG_012830.2:g.18002G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1618G>A ENSP00000496052.2:p.Val540Met
ENST00000399959.7:c.1483G>A ENSP00000382840.3:p.Val495Met
ENST00000441189.4:c.1387G>A ENSP00000414281.3:p.Val463Met
ENST00000457138.7:c.1438G>A ENSP00000392494.2:p.Val480Met
ENST00000611968.2:c.80G>A
ENST00000616050.3:c.234G>A
ENST00000629496.3:c.1486G>A ENSP00000487224.1:p.Val496Met
ENST00000642161.1:n.3685G>A
ENST00000642322.1:c.928G>A ENSP00000496052.1:p.Val310Met
ENST00000642424.1:c.928G>A ENSP00000496356.1:p.Val310Met
ENST00000642589.1:n.4808G>A
ENST00000642597.1:n.1660G>A
ENST00000642687.1:n.1519G>A
ENST00000642722.1:n.2319G>A
ENST00000642763.1:n.2377G>A
ENST00000642793.1:c.*935G>A ENSP00000493976.1:n.*935G>A
ENST00000642801.1:n.1135G>A
ENST00000643820.1:n.762G>A
ENST00000643963.1:c.*768G>A ENSP00000495264.1:n.*768G>A
ENST00000644073.1:c.1444G>A ENSP00000493475.1:p.Val482Met
ENST00000644074.1:c.1483G>A ENSP00000496663.1:p.Val495Met
ENST00000644109.1:c.1648G>A ENSP00000494952.1:p.Val550Met
ENST00000644307.1:n.1656G>A
ENST00000644513.1:c.1486G>A ENSP00000493819.1:p.Val496Met
ENST00000644677.1:c.1369G>A ENSP00000496524.1:p.Val457Met
ENST00000644876.2:c.1486G>A MANE Select ENSP00000494040.1:p.Val496Met
ENST00000644958.1:n.3147G>A
ENST00000645080.1:c.*2708G>A ENSP00000494767.1:n.*2708G>A
ENST00000645120.1:n.2981G>A
ENST00000645338.1:n.1656G>A
ENST00000645380.1:n.2950G>A
ENST00000645561.1:n.2662G>A
ENST00000645574.1:n.4350G>A
ENST00000645589.1:c.1486G>A ENSP00000494588.1:p.Val496Met
ENST00000646107.1:c.1369G>A ENSP00000494518.1:p.Val457Met
ENST00000646122.1:c.1486G>A ENSP00000496222.1:p.Val496Met
ENST00000646196.1:n.2455G>A
ENST00000646223.1:c.*1479G>A ENSP00000496043.1:n.*1479G>A
ENST00000646319.1:c.1486G>A ENSP00000495377.1:p.Val496Met
ENST00000646390.1:n.3774G>A
ENST00000646627.1:c.928G>A ENSP00000493795.1:p.Val310Met
ENST00000646679.1:c.928G>A ENSP00000494887.1:p.Val310Met
ENST00000646822.1:n.2548G>A
ENST00000646940.1:n.1660G>A
ENST00000647286.1:n.1584G>A
ENST00000647477.1:n.225G>A
ENST00000399959.6:c.1486G>A ENSP00000382840.2:p.Val496Met
ENST00000441189.3:c.341-1241G>A ENSP00000414281.2:n.341-1241G>A
ENST00000457138.6:c.1438G>A ENSP00000392494.2:p.Val480Met
ENST00000478993.5:c.1486G>A ENSP00000478443.1:p.Val496Met
ENST00000542215.5:n.1534G>A
ENST00000616050.2:c.39G>A
ENST00000625837.2:c.1486G>A ENSP00000486306.1:p.Val496Met
ENST00000626301.2:c.1486G>A ENSP00000486443.1:p.Val496Met
ENST00000629496.2:c.1486G>A ENSP00000487224.1:p.Val496Met
ENST00000629785.2:c.1486G>A ENSP00000486516.1:p.Val496Met
ENST00000630255.2:c.1486G>A ENSP00000486720.1:p.Val496Met
ENST00000630370.2:c.1486G>A ENSP00000487062.1:p.Val496Met
ENST00000630858.2:c.1486G>A ENSP00000486514.1:p.Val496Met
NM_001193416.2:c.1486G>A NP_001180345.1:p.Val496Met
NM_001193417.2:c.1438G>A NP_001180346.1:p.Val480Met
NM_001356.4:c.1486G>A NP_001347.3:p.Val496Met
NR_126093.1:n.2431G>A
XM_011543892.1:c.1486G>A XP_011542194.1:p.Val496Met
NM_001363819.1:c.928G>A NP_001350748.1:p.Val310Met
XM_011543892.2:c.1486G>A XP_011542194.1:p.Val496Met
XM_017029313.1:c.928G>A XP_016884802.1:p.Val310Met
NM_001193416.3:c.1486G>A NP_001180345.1:p.Val496Met
NM_001193417.3:c.1438G>A NP_001180346.1:p.Val480Met
NM_001356.5:c.1486G>A MANE Select NP_001347.3:p.Val496Met