Canonical Allele Identifier: CA412764875

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2121099
• ClinVar RCV Id: RCV003048993
• dbSNP Id: rs1250603833
• gnomAD v4: X-41341535-C-T
• COSMIC: COSM3844706
• MyVariant Identifiers: chrX:g.41200788C>T (hg19) ; chrX:g.41341535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41341535C>T , CM000685.2:g.41341535C>T	GRCh38
NC_000023.10:g.41200788C>T , CM000685.1:g.41200788C>T	GRCh37
NC_000023.9:g.41085732C>T	NCBI36
NG_012830.1:g.13138C>T
NG_012830.2:g.13138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.335C>T	ENSP00000496052.2:p.Ala112Val
ENST00000399959.7:c.200C>T	ENSP00000382840.3:p.Ala67Val
ENST00000441189.4:c.203C>T	ENSP00000414281.3:p.Ala68Val
ENST00000457138.7:c.155C>T	ENSP00000392494.2:p.Ala52Val
ENST00000611546.2:n.509C>T
ENST00000615313.5:c.161C>T	ENSP00000496257.1:p.Ala54Val
ENST00000622198.5:n.360C>T
ENST00000629496.3:c.203C>T	ENSP00000487224.1:p.Ala68Val
ENST00000631641.2:n.246C>T
ENST00000642161.1:n.1524C>T
ENST00000642322.1:c.-356C>T	ENSP00000496052.1:n.-356C>T
ENST00000642424.1:c.-356C>T	ENSP00000496356.1:n.-356C>T
ENST00000642589.1:n.1593C>T
ENST00000642597.1:n.294C>T
ENST00000642624.1:n.93C>T
ENST00000642722.1:n.294C>T
ENST00000642763.1:n.216C>T
ENST00000642793.1:c.203C>T	ENSP00000493976.1:p.Ala68Val
ENST00000643963.1:c.203C>T	ENSP00000495264.1:p.Ala68Val
ENST00000644073.1:c.161C>T	ENSP00000493475.1:p.Ala54Val
ENST00000644074.1:c.200C>T	ENSP00000496663.1:p.Ala67Val
ENST00000644109.1:c.200C>T	ENSP00000494952.1:p.Ala67Val
ENST00000644260.1:n.31C>T
ENST00000644307.1:n.294C>T
ENST00000644513.1:c.203C>T	ENSP00000493819.1:p.Ala68Val
ENST00000644677.1:c.86C>T	ENSP00000496524.1:p.Ala29Val
ENST00000644876.2:c.203C>T MANE Select	ENSP00000494040.1:p.Ala68Val
ENST00000644958.1:n.1864C>T
ENST00000645080.1:c.*1425C>T	ENSP00000494767.1:n.*1425C>T
ENST00000645120.1:n.1698C>T
ENST00000645253.1:n.1626C>T
ENST00000645338.1:n.294C>T
ENST00000645380.1:n.1588C>T
ENST00000645561.1:n.294C>T
ENST00000645574.1:n.1514C>T
ENST00000645589.1:c.203C>T	ENSP00000494588.1:p.Ala68Val
ENST00000645783.1:c.*1302C>T	ENSP00000494905.1:n.*1302C>T
ENST00000646107.1:c.86C>T	ENSP00000494518.1:p.Ala29Val
ENST00000646122.1:c.203C>T	ENSP00000496222.1:p.Ala68Val
ENST00000646196.1:n.294C>T
ENST00000646223.1:c.*196C>T	ENSP00000496043.1:n.*196C>T
ENST00000646319.1:c.203C>T	ENSP00000495377.1:p.Ala68Val
ENST00000646390.1:n.1530C>T
ENST00000646627.1:c.-356C>T	ENSP00000493795.1:n.-356C>T
ENST00000646679.1:c.-356C>T	ENSP00000494887.1:n.-356C>T
ENST00000646822.1:n.294C>T
ENST00000646940.1:n.294C>T
ENST00000647219.1:n.188C>T
ENST00000399959.6:c.203C>T	ENSP00000382840.2:p.Ala68Val
ENST00000441189.3:c.203C>T	ENSP00000414281.2:p.Ala68Val
ENST00000457138.6:c.155C>T	ENSP00000392494.2:p.Ala52Val
ENST00000478993.5:c.203C>T	ENSP00000478443.1:p.Ala68Val
ENST00000542215.5:n.337C>T
ENST00000611546.1:n.335C>T
ENST00000615313.4:n.439C>T
ENST00000615742.4:c.203C>T	ENSP00000480647.1:p.Ala68Val
ENST00000622198.4:n.304C>T
ENST00000625837.2:c.203C>T	ENSP00000486306.1:p.Ala68Val
ENST00000626301.2:c.203C>T	ENSP00000486443.1:p.Ala68Val
ENST00000629496.2:c.203C>T	ENSP00000487224.1:p.Ala68Val
ENST00000629785.2:c.203C>T	ENSP00000486516.1:p.Ala68Val
ENST00000630255.2:c.203C>T	ENSP00000486720.1:p.Ala68Val
ENST00000630370.2:c.203C>T	ENSP00000487062.1:p.Ala68Val
ENST00000630858.2:c.203C>T	ENSP00000486514.1:p.Ala68Val
ENST00000631641.1:c.155C>T	ENSP00000488854.1:p.Ala52Val
NM_001193416.2:c.203C>T	NP_001180345.1:p.Ala68Val
NM_001193417.2:c.155C>T	NP_001180346.1:p.Ala52Val
NM_001356.4:c.203C>T	NP_001347.3:p.Ala68Val
NR_126093.1:n.1148C>T
XM_011543892.1:c.203C>T	XP_011542194.1:p.Ala68Val
NM_001363819.1:c.-356C>T	NP_001350748.1:n.-356C>T
XM_011543892.2:c.203C>T	XP_011542194.1:p.Ala68Val
XM_017029313.1:c.-356C>T	XP_016884802.1:n.-356C>T
NM_001193416.3:c.203C>T	NP_001180345.1:p.Ala68Val
NM_001193417.3:c.155C>T	NP_001180346.1:p.Ala52Val
NM_001356.5:c.203C>T MANE Select	NP_001347.3:p.Ala68Val