Canonical Allele Identifier: CA319630

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 207808
• ClinVar RCV Id: RCV000190103 ; RCV001264651 ; RCV002287387
• dbSNP Id: rs796052226
• MyVariant Identifiers: chrX:g.41205801T>C (hg19) ; chrX:g.41346548T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346548T>C , CM000685.2:g.41346548T>C	GRCh38
NC_000023.10:g.41205801T>C , CM000685.1:g.41205801T>C	GRCh37
NC_000023.9:g.41090745T>C	NCBI36
NG_012830.1:g.18151T>C
NG_012830.2:g.18151T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1673T>C	ENSP00000496052.2:p.Ile558Thr
ENST00000399959.7:c.1538T>C	ENSP00000382840.3:p.Ile513Thr
ENST00000441189.4:c.1442T>C	ENSP00000414281.3:p.Ile481Thr
ENST00000457138.7:c.1493T>C	ENSP00000392494.2:p.Ile498Thr
ENST00000611968.2:c.135T>C
ENST00000616050.3:c.289T>C
ENST00000629496.3:c.1541T>C	ENSP00000487224.1:p.Ile514Thr
ENST00000642161.1:n.3740T>C
ENST00000642322.1:c.983T>C	ENSP00000496052.1:p.Ile328Thr
ENST00000642424.1:c.983T>C	ENSP00000496356.1:p.Ile328Thr
ENST00000642589.1:n.4863T>C
ENST00000642597.1:n.1715T>C
ENST00000642687.1:n.1574T>C
ENST00000642722.1:n.2374T>C
ENST00000642763.1:n.2432T>C
ENST00000642793.1:c.*990T>C	ENSP00000493976.1:n.*990T>C
ENST00000642801.1:n.1190T>C
ENST00000643820.1:n.911T>C
ENST00000643963.1:c.*823T>C	ENSP00000495264.1:n.*823T>C
ENST00000644073.1:c.1499T>C	ENSP00000493475.1:p.Ile500Thr
ENST00000644074.1:c.1538T>C	ENSP00000496663.1:p.Ile513Thr
ENST00000644109.1:c.1703T>C	ENSP00000494952.1:p.Ile568Thr
ENST00000644307.1:n.1711T>C
ENST00000644513.1:c.1541T>C	ENSP00000493819.1:p.Ile514Thr
ENST00000644677.1:c.1424T>C	ENSP00000496524.1:p.Ile475Thr
ENST00000644876.2:c.1541T>C MANE Select	ENSP00000494040.1:p.Ile514Thr
ENST00000644958.1:n.3202T>C
ENST00000645080.1:c.*2763T>C	ENSP00000494767.1:n.*2763T>C
ENST00000645120.1:n.3036T>C
ENST00000645338.1:n.1711T>C
ENST00000645380.1:n.3005T>C
ENST00000645561.1:n.2717T>C
ENST00000645574.1:n.4405T>C
ENST00000645589.1:c.*40T>C	ENSP00000494588.1:n.*40T>C
ENST00000646107.1:c.1424T>C	ENSP00000494518.1:p.Ile475Thr
ENST00000646122.1:c.1541T>C	ENSP00000496222.1:p.Ile514Thr
ENST00000646196.1:n.2510T>C
ENST00000646223.1:c.*1534T>C	ENSP00000496043.1:n.*1534T>C
ENST00000646319.1:c.1541T>C	ENSP00000495377.1:p.Ile514Thr
ENST00000646390.1:n.3829T>C
ENST00000646627.1:c.983T>C	ENSP00000493795.1:p.Ile328Thr
ENST00000646679.1:c.983T>C	ENSP00000494887.1:p.Ile328Thr
ENST00000646822.1:n.2603T>C
ENST00000646940.1:n.1715T>C
ENST00000647286.1:n.1639T>C
ENST00000647477.1:n.280T>C
ENST00000399959.6:c.1541T>C	ENSP00000382840.2:p.Ile514Thr
ENST00000441189.3:c.341-1092T>C	ENSP00000414281.2:n.341-1092T>C
ENST00000457138.6:c.1493T>C	ENSP00000392494.2:p.Ile498Thr
ENST00000478993.5:c.1541T>C	ENSP00000478443.1:p.Ile514Thr
ENST00000542215.5:n.1589T>C
ENST00000616050.2:c.94T>C
ENST00000625837.2:c.1541T>C	ENSP00000486306.1:p.Ile514Thr
ENST00000626301.2:c.1541T>C	ENSP00000486443.1:p.Ile514Thr
ENST00000629496.2:c.1541T>C	ENSP00000487224.1:p.Ile514Thr
ENST00000629785.2:c.1541T>C	ENSP00000486516.1:p.Ile514Thr
ENST00000630255.2:c.1541T>C	ENSP00000486720.1:p.Ile514Thr
ENST00000630370.2:c.1541T>C	ENSP00000487062.1:p.Ile514Thr
ENST00000630858.2:c.1541T>C	ENSP00000486514.1:p.Ile514Thr
NM_001193416.2:c.1541T>C	NP_001180345.1:p.Ile514Thr
NM_001193417.2:c.1493T>C	NP_001180346.1:p.Ile498Thr
NM_001356.4:c.1541T>C	NP_001347.3:p.Ile514Thr
NR_126093.1:n.2486T>C
XM_011543892.1:c.1541T>C	XP_011542194.1:p.Ile514Thr
NM_001363819.1:c.983T>C	NP_001350748.1:p.Ile328Thr
XM_011543892.2:c.1541T>C	XP_011542194.1:p.Ile514Thr
XM_017029313.1:c.983T>C	XP_016884802.1:p.Ile328Thr
NM_001193416.3:c.1541T>C	NP_001180345.1:p.Ile514Thr
NM_001193417.3:c.1493T>C	NP_001180346.1:p.Ile498Thr
NM_001356.5:c.1541T>C MANE Select	NP_001347.3:p.Ile514Thr