Canonical Allele Identifier: CA515965862

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2018140
• ClinVar RCV Id: RCV002861848
• dbSNP Id: rs1403252758
• gnomAD v3: X-41334270-G-A
• gnomAD v4: X-41334270-G-A
• MyVariant Identifiers: chrX:g.41193523G>A (hg19) ; chrX:g.41334270G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41334270G>A , CM000685.2:g.41334270G>A	GRCh38
NC_000023.10:g.41193523G>A , CM000685.1:g.41193523G>A	GRCh37
NC_000023.9:g.41078467G>A	NCBI36
NG_012830.1:g.5873G>A
NG_012830.2:g.5873G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399959.7:c.18G>A	ENSP00000382840.3:p.Val6=
ENST00000441189.4:c.18G>A	ENSP00000414281.3:p.Val6=
ENST00000457138.7:c.18G>A	ENSP00000392494.2:p.Val6=
ENST00000480592.6:n.109G>A
ENST00000610559.5:n.436+487G>A
ENST00000611546.2:n.351+571G>A
ENST00000629496.3:c.18G>A	ENSP00000487224.1:p.Val6=
ENST00000631641.2:n.109G>A
ENST00000642597.1:n.109G>A
ENST00000642624.1:n.14G>A
ENST00000642722.1:n.109G>A
ENST00000642793.1:c.18G>A	ENSP00000493976.1:p.Val6=
ENST00000643821.1:c.18G>A	ENSP00000493997.1:p.Val6=
ENST00000643963.1:c.18G>A	ENSP00000495264.1:p.Val6=
ENST00000644074.1:c.18G>A	ENSP00000496663.1:p.Val6=
ENST00000644109.1:c.18G>A	ENSP00000494952.1:p.Val6=
ENST00000644307.1:n.109G>A
ENST00000644513.1:c.18G>A	ENSP00000493819.1:p.Val6=
ENST00000644876.2:c.18G>A MANE Select	ENSP00000494040.1:p.Val6=
ENST00000644958.1:n.109G>A
ENST00000645080.1:c.18G>A	ENSP00000494767.1:p.Val6=
ENST00000645338.1:n.109G>A
ENST00000645561.1:n.109G>A
ENST00000645589.1:c.18G>A	ENSP00000494588.1:p.Val6=
ENST00000645783.1:c.18G>A	ENSP00000494905.1:p.Val6=
ENST00000646122.1:c.18G>A	ENSP00000496222.1:p.Val6=
ENST00000646196.1:n.109G>A
ENST00000646223.1:c.18G>A	ENSP00000496043.1:p.Val6=
ENST00000646319.1:c.18G>A	ENSP00000495377.1:p.Val6=
ENST00000646822.1:n.109G>A
ENST00000646940.1:n.109G>A
ENST00000647219.1:n.109G>A
ENST00000399959.6:c.18G>A	ENSP00000382840.2:p.Val6=
ENST00000441189.3:c.18G>A	ENSP00000414281.2:p.Val6=
ENST00000457138.6:c.18G>A	ENSP00000392494.2:p.Val6=
ENST00000478993.5:c.18G>A	ENSP00000478443.1:p.Val6=
ENST00000480592.5:n.97G>A
ENST00000610559.4:n.436+487G>A
ENST00000615742.4:c.18G>A	ENSP00000480647.1:p.Val6=
ENST00000625837.2:c.18G>A	ENSP00000486306.1:p.Val6=
ENST00000626301.2:c.18G>A	ENSP00000486443.1:p.Val6=
ENST00000629496.2:c.18G>A	ENSP00000487224.1:p.Val6=
ENST00000629785.2:c.18G>A	ENSP00000486516.1:p.Val6=
ENST00000630255.2:c.18G>A	ENSP00000486720.1:p.Val6=
ENST00000630370.2:c.18G>A	ENSP00000487062.1:p.Val6=
ENST00000630858.2:c.18G>A	ENSP00000486514.1:p.Val6=
ENST00000631641.1:c.18G>A	ENSP00000488854.1:p.Val6=
NM_001193416.2:c.18G>A	NP_001180345.1:p.Val6=
NM_001193417.2:c.18G>A	NP_001180346.1:p.Val6=
NM_001356.4:c.18G>A	NP_001347.3:p.Val6=
NR_126093.1:n.963G>A
NR_126094.1:n.109G>A
XM_011543892.1:c.18G>A	XP_011542194.1:p.Val6=
NM_001363819.1:c.-1886G>A	NP_001350748.1:n.-1886G>A
XM_011543892.2:c.18G>A	XP_011542194.1:p.Val6=
XM_017029313.1:c.-1886G>A	XP_016884802.1:n.-1886G>A
XR_001755832.1:n.76+596C>T
XR_001755833.1:n.78+596C>T
XR_001755834.1:n.76+596C>T
XR_001755835.1:n.80+596C>T
NM_001193416.3:c.18G>A	NP_001180345.1:p.Val6=
NM_001193417.3:c.18G>A	NP_001180346.1:p.Val6=
NM_001356.5:c.18G>A MANE Select	NP_001347.3:p.Val6=
NR_126094.2:n.109G>A