Canonical Allele Identifier: CA641899940

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2817441
• ClinVar RCV Id: RCV003720978
• dbSNP Id: rs1454645098
• gnomAD v2: X-41206095-T-C
• gnomAD v4: X-41346842-T-C
• MyVariant Identifiers: chrX:g.41206095T>C (hg19) ; chrX:g.41346842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346842T>C , CM000685.2:g.41346842T>C	GRCh38
NC_000023.10:g.41206095T>C , CM000685.1:g.41206095T>C	GRCh37
NC_000023.9:g.41091039T>C	NCBI36
NG_012830.1:g.18445T>C
NG_012830.2:g.18445T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1748-17T>C	ENSP00000496052.2:n.1748-17T>C
ENST00000399959.7:c.1613-17T>C	ENSP00000382840.3:n.1613-17T>C
ENST00000441189.4:c.1517-17T>C	ENSP00000414281.3:n.1517-17T>C
ENST00000457138.7:c.1568-17T>C	ENSP00000392494.2:n.1568-17T>C
ENST00000611968.2:c.210-17T>C
ENST00000616050.3:c.364-17T>C
ENST00000629496.3:c.1616-17T>C	ENSP00000487224.1:n.1616-17T>C
ENST00000642161.1:n.3815-17T>C
ENST00000642322.1:c.1058-17T>C	ENSP00000496052.1:n.1058-17T>C
ENST00000642424.1:c.1058-17T>C	ENSP00000496356.1:n.1058-17T>C
ENST00000642589.1:n.4938-17T>C
ENST00000642597.1:n.1790-17T>C
ENST00000642687.1:n.1649-17T>C
ENST00000642722.1:n.2449-17T>C
ENST00000642763.1:n.2507-17T>C
ENST00000642793.1:c.*1065-17T>C	ENSP00000493976.1:n.*1065-17T>C
ENST00000642801.1:n.1265-17T>C
ENST00000643820.1:n.986-17T>C
ENST00000643963.1:c.*898-17T>C	ENSP00000495264.1:n.*898-17T>C
ENST00000644073.1:c.1574-17T>C	ENSP00000493475.1:n.1574-17T>C
ENST00000644074.1:c.1613-17T>C	ENSP00000496663.1:n.1613-17T>C
ENST00000644109.1:c.1778-17T>C	ENSP00000494952.1:n.1778-17T>C
ENST00000644307.1:n.1786-17T>C
ENST00000644513.1:c.1616-17T>C	ENSP00000493819.1:n.1616-17T>C
ENST00000644677.1:c.1499-17T>C	ENSP00000496524.1:n.1499-17T>C
ENST00000644876.2:c.1616-17T>C MANE Select	ENSP00000494040.1:n.1616-17T>C
ENST00000644958.1:n.3277-17T>C
ENST00000645080.1:c.*2838-17T>C	ENSP00000494767.1:n.*2838-17T>C
ENST00000645120.1:n.3111-17T>C
ENST00000645338.1:n.1786-17T>C
ENST00000645380.1:n.3080-17T>C
ENST00000645561.1:n.2792-17T>C
ENST00000645574.1:n.4480-17T>C
ENST00000645589.1:c.*115-17T>C	ENSP00000494588.1:n.*115-17T>C
ENST00000646107.1:c.1499-17T>C	ENSP00000494518.1:n.1499-17T>C
ENST00000646122.1:c.1616-17T>C	ENSP00000496222.1:n.1616-17T>C
ENST00000646196.1:n.2585-17T>C
ENST00000646223.1:c.*1609-17T>C	ENSP00000496043.1:n.*1609-17T>C
ENST00000646319.1:c.1616-17T>C	ENSP00000495377.1:n.1616-17T>C
ENST00000646390.1:n.3904-17T>C
ENST00000646627.1:c.1058-17T>C	ENSP00000493795.1:n.1058-17T>C
ENST00000646679.1:c.1058-17T>C	ENSP00000494887.1:n.1058-17T>C
ENST00000646822.1:n.2678-17T>C
ENST00000646940.1:n.1790-17T>C
ENST00000647286.1:n.1714-17T>C
ENST00000647477.1:n.355-17T>C
ENST00000399959.6:c.1616-17T>C	ENSP00000382840.2:n.1616-17T>C
ENST00000441189.3:c.341-798T>C	ENSP00000414281.2:n.341-798T>C
ENST00000457138.6:c.1568-17T>C	ENSP00000392494.2:n.1568-17T>C
ENST00000478993.5:c.1616-17T>C	ENSP00000478443.1:n.1616-17T>C
ENST00000611968.1:c.58-17T>C
ENST00000616050.2:c.169-17T>C
ENST00000625837.2:c.1616-17T>C	ENSP00000486306.1:n.1616-17T>C
ENST00000626301.2:c.1616-17T>C	ENSP00000486443.1:n.1616-17T>C
ENST00000629496.2:c.1616-17T>C	ENSP00000487224.1:n.1616-17T>C
ENST00000629785.2:c.1616-17T>C	ENSP00000486516.1:n.1616-17T>C
ENST00000630255.2:c.1616-17T>C	ENSP00000486720.1:n.1616-17T>C
ENST00000630370.2:c.1616-17T>C	ENSP00000487062.1:n.1616-17T>C
ENST00000630858.2:c.1616-17T>C	ENSP00000486514.1:n.1616-17T>C
NM_001193416.2:c.1616-17T>C	NP_001180345.1:n.1616-17T>C
NM_001193417.2:c.1568-17T>C	NP_001180346.1:n.1568-17T>C
NM_001356.4:c.1616-17T>C	NP_001347.3:n.1616-17T>C
NR_126093.1:n.2561-17T>C
XM_011543892.1:c.1616-17T>C	XP_011542194.1:n.1616-17T>C
NM_001363819.1:c.1058-17T>C	NP_001350748.1:n.1058-17T>C
XM_011543892.2:c.1616-17T>C	XP_011542194.1:n.1616-17T>C
XM_017029313.1:c.1058-17T>C	XP_016884802.1:n.1058-17T>C
NM_001193416.3:c.1616-17T>C	NP_001180345.1:n.1616-17T>C
NM_001193417.3:c.1568-17T>C	NP_001180346.1:n.1568-17T>C
NM_001356.5:c.1616-17T>C MANE Select	NP_001347.3:n.1616-17T>C