Canonical Allele Identifier: CA16044243
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 375367
dbSNP Id: rs1057519430
COSMIC: COSM255236

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346946C>T , CM000685.2:g.41346946C>T GRCh38
NC_000023.10:g.41206199C>T , CM000685.1:g.41206199C>T GRCh37
NC_000023.9:g.41091143C>T NCBI36
NG_012830.1:g.18549C>T
NG_012830.2:g.18549C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1835C>T ENSP00000496052.2:p.Pro612Leu
ENST00000399959.7:c.1700C>T ENSP00000382840.3:p.Pro567Leu
ENST00000441189.4:c.1604C>T ENSP00000414281.3:p.Pro535Leu
ENST00000457138.7:c.1655C>T ENSP00000392494.2:p.Pro552Leu
ENST00000611968.2:c.297C>T
ENST00000616050.3:c.451C>T
ENST00000629496.3:c.1703C>T ENSP00000487224.1:p.Pro568Leu
ENST00000642161.1:n.3902C>T
ENST00000642322.1:c.1145C>T ENSP00000496052.1:p.Pro382Leu
ENST00000642424.1:c.1145C>T ENSP00000496356.1:p.Pro382Leu
ENST00000642589.1:n.5025C>T
ENST00000642597.1:n.1877C>T
ENST00000642687.1:n.1736C>T
ENST00000642722.1:n.2536C>T
ENST00000642763.1:n.2594C>T
ENST00000642793.1:c.*1152C>T ENSP00000493976.1:n.*1152C>T
ENST00000642801.1:n.1352C>T
ENST00000643820.1:n.1073C>T
ENST00000643963.1:c.*985C>T ENSP00000495264.1:n.*985C>T
ENST00000644073.1:c.1661C>T ENSP00000493475.1:p.Pro554Leu
ENST00000644074.1:c.1700C>T ENSP00000496663.1:p.Pro567Leu
ENST00000644109.1:c.1865C>T ENSP00000494952.1:p.Pro622Leu
ENST00000644307.1:n.1873C>T
ENST00000644513.1:c.1703C>T ENSP00000493819.1:p.Pro568Leu
ENST00000644677.1:c.1586C>T ENSP00000496524.1:p.Pro529Leu
ENST00000644876.2:c.1703C>T MANE Select ENSP00000494040.1:p.Pro568Leu
ENST00000644958.1:n.3364C>T
ENST00000645080.1:c.*2925C>T ENSP00000494767.1:n.*2925C>T
ENST00000645120.1:n.3198C>T
ENST00000645338.1:n.1873C>T
ENST00000645380.1:n.3167C>T
ENST00000645561.1:n.2879C>T
ENST00000645574.1:n.4567C>T
ENST00000645589.1:c.*202C>T ENSP00000494588.1:n.*202C>T
ENST00000646107.1:c.1586C>T ENSP00000494518.1:p.Pro529Leu
ENST00000646122.1:c.1703C>T ENSP00000496222.1:p.Pro568Leu
ENST00000646196.1:n.2672C>T
ENST00000646223.1:c.*1696C>T ENSP00000496043.1:n.*1696C>T
ENST00000646319.1:c.1703C>T ENSP00000495377.1:p.Pro568Leu
ENST00000646390.1:n.3991C>T
ENST00000646627.1:c.1145C>T ENSP00000493795.1:p.Pro382Leu
ENST00000646679.1:c.1145C>T ENSP00000494887.1:p.Pro382Leu
ENST00000646822.1:n.2765C>T
ENST00000646940.1:n.1877C>T
ENST00000647286.1:n.1801C>T
ENST00000647477.1:n.442C>T
ENST00000399959.6:c.1703C>T ENSP00000382840.2:p.Pro568Leu
ENST00000441189.3:c.341-694C>T ENSP00000414281.2:n.341-694C>T
ENST00000457138.6:c.1655C>T ENSP00000392494.2:p.Pro552Leu
ENST00000478993.5:c.1703C>T ENSP00000478443.1:p.Pro568Leu
ENST00000611968.1:c.145C>T
ENST00000616050.2:c.256C>T
ENST00000625837.2:c.1703C>T ENSP00000486306.1:p.Pro568Leu
ENST00000626301.2:c.1703C>T ENSP00000486443.1:p.Pro568Leu
ENST00000629496.2:c.1703C>T ENSP00000487224.1:p.Pro568Leu
ENST00000629785.2:c.1703C>T ENSP00000486516.1:p.Pro568Leu
ENST00000630255.2:c.1703C>T ENSP00000486720.1:p.Pro568Leu
ENST00000630370.2:c.1703C>T ENSP00000487062.1:p.Pro568Leu
ENST00000630858.2:c.1703C>T ENSP00000486514.1:p.Pro568Leu
NM_001193416.2:c.1703C>T NP_001180345.1:p.Pro568Leu
NM_001193417.2:c.1655C>T NP_001180346.1:p.Pro552Leu
NM_001356.4:c.1703C>T NP_001347.3:p.Pro568Leu
NR_126093.1:n.2648C>T
XM_011543892.1:c.1703C>T XP_011542194.1:p.Pro568Leu
NM_001363819.1:c.1145C>T NP_001350748.1:p.Pro382Leu
XM_011543892.2:c.1703C>T XP_011542194.1:p.Pro568Leu
XM_017029313.1:c.1145C>T XP_016884802.1:p.Pro382Leu
NM_001193416.3:c.1703C>T NP_001180345.1:p.Pro568Leu
NM_001193417.3:c.1655C>T NP_001180346.1:p.Pro552Leu
NM_001356.5:c.1703C>T MANE Select NP_001347.3:p.Pro568Leu