Canonical Allele Identifier: CA16621394
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 421228
ClinVar RCV Id: RCV001796072
dbSNP Id: rs1064794993

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346919T>A , CM000685.2:g.41346919T>A GRCh38
NC_000023.10:g.41206172T>A , CM000685.1:g.41206172T>A GRCh37
NC_000023.9:g.41091116T>A NCBI36
NG_012830.1:g.18522T>A
NG_012830.2:g.18522T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1808T>A ENSP00000496052.2:p.Leu603His
ENST00000399959.7:c.1673T>A ENSP00000382840.3:p.Leu558His
ENST00000441189.4:c.1577T>A ENSP00000414281.3:p.Leu526His
ENST00000457138.7:c.1628T>A ENSP00000392494.2:p.Leu543His
ENST00000611968.2:c.270T>A
ENST00000616050.3:c.424T>A
ENST00000629496.3:c.1676T>A ENSP00000487224.1:p.Leu559His
ENST00000642161.1:n.3875T>A
ENST00000642322.1:c.1118T>A ENSP00000496052.1:p.Leu373His
ENST00000642424.1:c.1118T>A ENSP00000496356.1:p.Leu373His
ENST00000642589.1:n.4998T>A
ENST00000642597.1:n.1850T>A
ENST00000642687.1:n.1709T>A
ENST00000642722.1:n.2509T>A
ENST00000642763.1:n.2567T>A
ENST00000642793.1:c.*1125T>A ENSP00000493976.1:n.*1125T>A
ENST00000642801.1:n.1325T>A
ENST00000643820.1:n.1046T>A
ENST00000643963.1:c.*958T>A ENSP00000495264.1:n.*958T>A
ENST00000644073.1:c.1634T>A ENSP00000493475.1:p.Leu545His
ENST00000644074.1:c.1673T>A ENSP00000496663.1:p.Leu558His
ENST00000644109.1:c.1838T>A ENSP00000494952.1:p.Leu613His
ENST00000644307.1:n.1846T>A
ENST00000644513.1:c.1676T>A ENSP00000493819.1:p.Leu559His
ENST00000644677.1:c.1559T>A ENSP00000496524.1:p.Leu520His
ENST00000644876.2:c.1676T>A MANE Select ENSP00000494040.1:p.Leu559His
ENST00000644958.1:n.3337T>A
ENST00000645080.1:c.*2898T>A ENSP00000494767.1:n.*2898T>A
ENST00000645120.1:n.3171T>A
ENST00000645338.1:n.1846T>A
ENST00000645380.1:n.3140T>A
ENST00000645561.1:n.2852T>A
ENST00000645574.1:n.4540T>A
ENST00000645589.1:c.*175T>A ENSP00000494588.1:n.*175T>A
ENST00000646107.1:c.1559T>A ENSP00000494518.1:p.Leu520His
ENST00000646122.1:c.1676T>A ENSP00000496222.1:p.Leu559His
ENST00000646196.1:n.2645T>A
ENST00000646223.1:c.*1669T>A ENSP00000496043.1:n.*1669T>A
ENST00000646319.1:c.1676T>A ENSP00000495377.1:p.Leu559His
ENST00000646390.1:n.3964T>A
ENST00000646627.1:c.1118T>A ENSP00000493795.1:p.Leu373His
ENST00000646679.1:c.1118T>A ENSP00000494887.1:p.Leu373His
ENST00000646822.1:n.2738T>A
ENST00000646940.1:n.1850T>A
ENST00000647286.1:n.1774T>A
ENST00000647477.1:n.415T>A
ENST00000399959.6:c.1676T>A ENSP00000382840.2:p.Leu559His
ENST00000441189.3:c.341-721T>A ENSP00000414281.2:n.341-721T>A
ENST00000457138.6:c.1628T>A ENSP00000392494.2:p.Leu543His
ENST00000478993.5:c.1676T>A ENSP00000478443.1:p.Leu559His
ENST00000611968.1:c.118T>A
ENST00000616050.2:c.229T>A
ENST00000625837.2:c.1676T>A ENSP00000486306.1:p.Leu559His
ENST00000626301.2:c.1676T>A ENSP00000486443.1:p.Leu559His
ENST00000629496.2:c.1676T>A ENSP00000487224.1:p.Leu559His
ENST00000629785.2:c.1676T>A ENSP00000486516.1:p.Leu559His
ENST00000630255.2:c.1676T>A ENSP00000486720.1:p.Leu559His
ENST00000630370.2:c.1676T>A ENSP00000487062.1:p.Leu559His
ENST00000630858.2:c.1676T>A ENSP00000486514.1:p.Leu559His
NM_001193416.2:c.1676T>A NP_001180345.1:p.Leu559His
NM_001193417.2:c.1628T>A NP_001180346.1:p.Leu543His
NM_001356.4:c.1676T>A NP_001347.3:p.Leu559His
NR_126093.1:n.2621T>A
XM_011543892.1:c.1676T>A XP_011542194.1:p.Leu559His
NM_001363819.1:c.1118T>A NP_001350748.1:p.Leu373His
XM_011543892.2:c.1676T>A XP_011542194.1:p.Leu559His
XM_017029313.1:c.1118T>A XP_016884802.1:p.Leu373His
NM_001193416.3:c.1676T>A NP_001180345.1:p.Leu559His
NM_001193417.3:c.1628T>A NP_001180346.1:p.Leu543His
NM_001356.5:c.1676T>A MANE Select NP_001347.3:p.Leu559His