Canonical Allele Identifier: CA516347475
Gene: DDX3X HGNC NCBI

Linked Data

dbSNP Id: rs1411728968
gnomAD v3: X-41345237-T-A
gnomAD v4: X-41345237-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41345237T>A , CM000685.2:g.41345237T>A GRCh38
NC_000023.10:g.41204490T>A , CM000685.1:g.41204490T>A GRCh37
NC_000023.9:g.41089434T>A NCBI36
NG_012830.1:g.16840T>A
NG_012830.2:g.16840T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642322.2:c.1215T>A ENSP00000496052.2:p.Ile405=
ENST00000399959.7:c.1080T>A ENSP00000382840.3:p.Ile360=
ENST00000441189.4:c.984T>A ENSP00000414281.3:p.Ile328=
ENST00000457138.7:c.1035T>A ENSP00000392494.2:p.Ile345=
ENST00000629496.3:c.1083T>A ENSP00000487224.1:p.Ile361=
ENST00000642161.1:n.3282T>A
ENST00000642322.1:c.525T>A ENSP00000496052.1:p.Ile175=
ENST00000642424.1:c.525T>A ENSP00000496356.1:p.Ile175=
ENST00000642589.1:n.4405T>A
ENST00000642597.1:n.1257T>A
ENST00000642687.1:n.1116T>A
ENST00000642722.1:n.1916T>A
ENST00000642763.1:n.1974T>A
ENST00000642793.1:c.*532T>A ENSP00000493976.1:n.*532T>A
ENST00000642801.1:n.732T>A
ENST00000643820.1:n.359T>A
ENST00000643963.1:c.*365T>A ENSP00000495264.1:n.*365T>A
ENST00000644073.1:c.1041T>A ENSP00000493475.1:p.Ile347=
ENST00000644074.1:c.1080T>A ENSP00000496663.1:p.Ile360=
ENST00000644109.1:c.1245T>A ENSP00000494952.1:p.Ile415=
ENST00000644307.1:n.1174T>A
ENST00000644513.1:c.1083T>A ENSP00000493819.1:p.Ile361=
ENST00000644677.1:c.966T>A ENSP00000496524.1:p.Ile322=
ENST00000644876.2:c.1083T>A MANE Select ENSP00000494040.1:p.Ile361=
ENST00000644958.1:n.2744T>A
ENST00000645080.1:c.*2305T>A ENSP00000494767.1:n.*2305T>A
ENST00000645120.1:n.2578T>A
ENST00000645338.1:n.1174T>A
ENST00000645380.1:n.2468T>A
ENST00000645561.1:n.2259T>A
ENST00000645574.1:n.3947T>A
ENST00000645589.1:c.1083T>A ENSP00000494588.1:p.Ile361=
ENST00000646093.1:n.267T>A
ENST00000646107.1:c.966T>A ENSP00000494518.1:p.Ile322=
ENST00000646122.1:c.1083T>A ENSP00000496222.1:p.Ile361=
ENST00000646196.1:n.2052T>A
ENST00000646223.1:c.*1076T>A ENSP00000496043.1:n.*1076T>A
ENST00000646319.1:c.1083T>A ENSP00000495377.1:p.Ile361=
ENST00000646390.1:n.3371T>A
ENST00000646627.1:c.525T>A ENSP00000493795.1:p.Ile175=
ENST00000646679.1:c.525T>A ENSP00000494887.1:p.Ile175=
ENST00000646822.1:n.2145T>A
ENST00000646940.1:n.1257T>A
ENST00000647286.1:n.1181T>A
ENST00000399959.6:c.1083T>A ENSP00000382840.2:p.Ile361=
ENST00000441189.3:c.341-2403T>A ENSP00000414281.2:n.341-2403T>A
ENST00000457138.6:c.1035T>A ENSP00000392494.2:p.Ile345=
ENST00000478993.5:c.1083T>A ENSP00000478443.1:p.Ile361=
ENST00000542215.5:n.1131T>A
ENST00000625837.2:c.1083T>A ENSP00000486306.1:p.Ile361=
ENST00000626301.2:c.1083T>A ENSP00000486443.1:p.Ile361=
ENST00000629496.2:c.1083T>A ENSP00000487224.1:p.Ile361=
ENST00000629785.2:c.1083T>A ENSP00000486516.1:p.Ile361=
ENST00000630255.2:c.1083T>A ENSP00000486720.1:p.Ile361=
ENST00000630370.2:c.1083T>A ENSP00000487062.1:p.Ile361=
ENST00000630858.2:c.1083T>A ENSP00000486514.1:p.Ile361=
NM_001193416.2:c.1083T>A NP_001180345.1:p.Ile361=
NM_001193417.2:c.1035T>A NP_001180346.1:p.Ile345=
NM_001356.4:c.1083T>A NP_001347.3:p.Ile361=
NR_126093.1:n.2028T>A
XM_011543892.1:c.1083T>A XP_011542194.1:p.Ile361=
NM_001363819.1:c.525T>A NP_001350748.1:p.Ile175=
XM_011543892.2:c.1083T>A XP_011542194.1:p.Ile361=
XM_017029313.1:c.525T>A XP_016884802.1:p.Ile175=
NM_001193416.3:c.1083T>A NP_001180345.1:p.Ile361=
NM_001193417.3:c.1035T>A NP_001180346.1:p.Ile345=
NM_001356.5:c.1083T>A MANE Select NP_001347.3:p.Ile361=