Canonical Allele Identifier: CA2693487192
Gene: DDX3X HGNC NCBI

Linked Data

gnomAD v4: X-41344236-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41344236T>C , CM000685.2:g.41344236T>C GRCh38
NC_000023.10:g.41203489T>C , CM000685.1:g.41203489T>C GRCh37
NC_000023.9:g.41088433T>C NCBI36
NG_012830.1:g.15839T>C
NG_012830.2:g.15839T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642322.2:c.997-3T>C ENSP00000496052.2:n.997-3T>C
ENST00000399959.7:c.862-3T>C ENSP00000382840.3:n.862-3T>C
ENST00000441189.4:c.766-3T>C ENSP00000414281.3:n.766-3T>C
ENST00000457138.7:c.817-3T>C ENSP00000392494.2:n.817-3T>C
ENST00000629496.3:c.865-3T>C ENSP00000487224.1:n.865-3T>C
ENST00000631641.2:n.908-3T>C
ENST00000642161.1:n.3064-3T>C
ENST00000642322.1:c.307-3T>C ENSP00000496052.1:n.307-3T>C
ENST00000642424.1:c.307-3T>C ENSP00000496356.1:n.307-3T>C
ENST00000642589.1:n.4187-3T>C
ENST00000642597.1:n.1039-3T>C
ENST00000642687.1:n.898-3T>C
ENST00000642722.1:n.1698-3T>C
ENST00000642763.1:n.1756-3T>C
ENST00000642793.1:c.*314-3T>C ENSP00000493976.1:n.*314-3T>C
ENST00000642801.1:n.514-3T>C
ENST00000643820.1:n.141-3T>C
ENST00000643963.1:c.*147-3T>C ENSP00000495264.1:n.*147-3T>C
ENST00000644073.1:c.823-3T>C ENSP00000493475.1:n.823-3T>C
ENST00000644074.1:c.862-3T>C ENSP00000496663.1:n.862-3T>C
ENST00000644109.1:c.862-3T>C ENSP00000494952.1:n.862-3T>C
ENST00000644307.1:n.956-3T>C
ENST00000644513.1:c.865-3T>C ENSP00000493819.1:n.865-3T>C
ENST00000644677.1:c.748-3T>C ENSP00000496524.1:n.748-3T>C
ENST00000644876.2:c.865-3T>C MANE Select ENSP00000494040.1:n.865-3T>C
ENST00000644958.1:n.2526-3T>C
ENST00000645080.1:c.*2087-3T>C ENSP00000494767.1:n.*2087-3T>C
ENST00000645120.1:n.2360-3T>C
ENST00000645338.1:n.956-3T>C
ENST00000645380.1:n.2250-3T>C
ENST00000645561.1:n.2041-3T>C
ENST00000645574.1:n.3729-3T>C
ENST00000645589.1:c.865-3T>C ENSP00000494588.1:n.865-3T>C
ENST00000646093.1:n.46T>C
ENST00000646107.1:c.748-3T>C ENSP00000494518.1:n.748-3T>C
ENST00000646122.1:c.865-3T>C ENSP00000496222.1:n.865-3T>C
ENST00000646196.1:n.1834-3T>C
ENST00000646223.1:c.*858-3T>C ENSP00000496043.1:n.*858-3T>C
ENST00000646319.1:c.865-3T>C ENSP00000495377.1:n.865-3T>C
ENST00000646390.1:n.3153-3T>C
ENST00000646627.1:c.307-3T>C ENSP00000493795.1:n.307-3T>C
ENST00000646679.1:c.307-3T>C ENSP00000494887.1:n.307-3T>C
ENST00000646822.1:n.1927-3T>C
ENST00000646940.1:n.1039-3T>C
ENST00000647286.1:n.963-3T>C
ENST00000399959.6:c.865-3T>C ENSP00000382840.2:n.865-3T>C
ENST00000441189.3:c.340+1686T>C ENSP00000414281.2:n.340+1686T>C
ENST00000457138.6:c.817-3T>C ENSP00000392494.2:n.817-3T>C
ENST00000478993.5:c.865-3T>C ENSP00000478443.1:n.865-3T>C
ENST00000542215.5:n.913-3T>C
ENST00000625837.2:c.865-3T>C ENSP00000486306.1:n.865-3T>C
ENST00000626301.2:c.865-3T>C ENSP00000486443.1:n.865-3T>C
ENST00000629496.2:c.865-3T>C ENSP00000487224.1:n.865-3T>C
ENST00000629785.2:c.865-3T>C ENSP00000486516.1:n.865-3T>C
ENST00000630255.2:c.865-3T>C ENSP00000486720.1:n.865-3T>C
ENST00000630370.2:c.865-3T>C ENSP00000487062.1:n.865-3T>C
ENST00000630858.2:c.865-3T>C ENSP00000486514.1:n.865-3T>C
NM_001193416.2:c.865-3T>C NP_001180345.1:n.865-3T>C
NM_001193417.2:c.817-3T>C NP_001180346.1:n.817-3T>C
NM_001356.4:c.865-3T>C NP_001347.3:n.865-3T>C
NR_126093.1:n.1810-3T>C
XM_011543892.1:c.865-3T>C XP_011542194.1:n.865-3T>C
NM_001363819.1:c.307-3T>C NP_001350748.1:n.307-3T>C
XM_011543892.2:c.865-3T>C XP_011542194.1:n.865-3T>C
XM_017029313.1:c.307-3T>C XP_016884802.1:n.307-3T>C
NM_001193416.3:c.865-3T>C NP_001180345.1:n.865-3T>C
NM_001193417.3:c.817-3T>C NP_001180346.1:n.817-3T>C
NM_001356.5:c.865-3T>C MANE Select NP_001347.3:n.865-3T>C