Canonical Allele Identifier: CA16621378
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 419328
ClinVar RCV Id: RCV000483467 RCV001253449
dbSNP Id: rs1064793796
gnomAD v4: X-41339053-C-T
MyVariant Identifiers: chrX:g.41198306C>T (hg19) chrX:g.41339053C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41339053C>T , CM000685.2:g.41339053C>T GRCh38
NC_000023.10:g.41198306C>T , CM000685.1:g.41198306C>T GRCh37
NC_000023.9:g.41083250C>T NCBI36
NG_012830.1:g.10656C>T
NG_012830.2:g.10656C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.253C>T ENSP00000496052.2:p.Pro85Ser
ENST00000399959.7:c.118C>T ENSP00000382840.3:p.Pro40Ser
ENST00000441189.4:c.121C>T ENSP00000414281.3:p.Pro41Ser
ENST00000457138.7:c.103+1588C>T ENSP00000392494.2:n.103+1588C>T
ENST00000480592.6:n.1782C>T
ENST00000610559.5:n.512C>T
ENST00000611546.2:n.427C>T
ENST00000615313.5:c.79C>T ENSP00000496257.1:p.Pro27Ser
ENST00000622198.5:n.278C>T
ENST00000629496.3:c.121C>T ENSP00000487224.1:p.Pro41Ser
ENST00000631641.2:n.194+1588C>T
ENST00000642322.1:c.-438C>T ENSP00000496052.1:n.-438C>T
ENST00000642597.1:n.212C>T
ENST00000642624.1:n.42-2431C>T
ENST00000642722.1:n.212C>T
ENST00000642793.1:c.121C>T ENSP00000493976.1:p.Pro41Ser
ENST00000643963.1:c.121C>T ENSP00000495264.1:p.Pro41Ser
ENST00000644073.1:c.79C>T ENSP00000493475.1:p.Pro27Ser
ENST00000644074.1:c.118C>T ENSP00000496663.1:p.Pro40Ser
ENST00000644109.1:c.118C>T ENSP00000494952.1:p.Pro40Ser
ENST00000644307.1:n.212C>T
ENST00000644513.1:c.121C>T ENSP00000493819.1:p.Pro41Ser
ENST00000644677.1:c.-176C>T ENSP00000496524.1:n.-176C>T
ENST00000644876.2:c.121C>T MANE Select ENSP00000494040.1:p.Pro41Ser
ENST00000644958.1:n.1782C>T
ENST00000645080.1:c.*1343C>T ENSP00000494767.1:n.*1343C>T
ENST00000645120.1:n.1616C>T
ENST00000645338.1:n.212C>T
ENST00000645561.1:n.212C>T
ENST00000645589.1:c.121C>T ENSP00000494588.1:p.Pro41Ser
ENST00000645783.1:c.*1220C>T ENSP00000494905.1:n.*1220C>T
ENST00000646107.1:c.-176C>T ENSP00000494518.1:n.-176C>T
ENST00000646122.1:c.121C>T ENSP00000496222.1:p.Pro41Ser
ENST00000646196.1:n.212C>T
ENST00000646223.1:c.121C>T ENSP00000496043.1:p.Pro41Ser
ENST00000646319.1:c.121C>T ENSP00000495377.1:p.Pro41Ser
ENST00000646627.1:c.-438C>T ENSP00000493795.1:n.-438C>T
ENST00000646822.1:n.212C>T
ENST00000646940.1:n.212C>T
ENST00000647219.1:n.137-2431C>T
ENST00000399959.6:c.121C>T ENSP00000382840.2:p.Pro41Ser
ENST00000441189.3:c.121C>T ENSP00000414281.2:p.Pro41Ser
ENST00000457138.6:c.103+1588C>T ENSP00000392494.2:n.103+1588C>T
ENST00000478993.5:c.121C>T ENSP00000478443.1:p.Pro41Ser
ENST00000542215.5:n.255C>T
ENST00000610559.4:n.512C>T
ENST00000611546.1:n.253C>T
ENST00000615313.4:n.357C>T
ENST00000615742.4:c.121C>T ENSP00000480647.1:p.Pro41Ser
ENST00000622198.4:n.222C>T
ENST00000625837.2:c.121C>T ENSP00000486306.1:p.Pro41Ser
ENST00000626301.2:c.121C>T ENSP00000486443.1:p.Pro41Ser
ENST00000629496.2:c.121C>T ENSP00000487224.1:p.Pro41Ser
ENST00000629785.2:c.121C>T ENSP00000486516.1:p.Pro41Ser
ENST00000630255.2:c.121C>T ENSP00000486720.1:p.Pro41Ser
ENST00000630370.2:c.121C>T ENSP00000487062.1:p.Pro41Ser
ENST00000630858.2:c.121C>T ENSP00000486514.1:p.Pro41Ser
ENST00000631641.1:c.103+1588C>T ENSP00000488854.1:n.103+1588C>T
NM_001193416.2:c.121C>T NP_001180345.1:p.Pro41Ser
NM_001193417.2:c.103+1588C>T NP_001180346.1:n.103+1588C>T
NM_001356.4:c.121C>T NP_001347.3:p.Pro41Ser
NR_126093.1:n.1066C>T
XM_011543892.1:c.121C>T XP_011542194.1:p.Pro41Ser
NM_001363819.1:c.-438C>T NP_001350748.1:n.-438C>T
XM_011543892.2:c.121C>T XP_011542194.1:p.Pro41Ser
XM_017029313.1:c.-438C>T XP_016884802.1:n.-438C>T
NM_001193416.3:c.121C>T NP_001180345.1:p.Pro41Ser
NM_001193417.3:c.103+1588C>T NP_001180346.1:n.103+1588C>T
NM_001356.5:c.121C>T MANE Select NP_001347.3:p.Pro41Ser
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