Canonical Allele Identifier: CA412776286

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1801356
• ClinVar RCV Id: RCV002463417
• MyVariant Identifiers: chrX:g.41205788G>A (hg19) ; chrX:g.41346535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346535G>A , CM000685.2:g.41346535G>A	GRCh38
NC_000023.10:g.41205788G>A , CM000685.1:g.41205788G>A	GRCh37
NC_000023.9:g.41090732G>A	NCBI36
NG_012830.1:g.18138G>A
NG_012830.2:g.18138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1660G>A	ENSP00000496052.2:p.Val554Met
ENST00000399959.7:c.1525G>A	ENSP00000382840.3:p.Val509Met
ENST00000441189.4:c.1429G>A	ENSP00000414281.3:p.Val477Met
ENST00000457138.7:c.1480G>A	ENSP00000392494.2:p.Val494Met
ENST00000611968.2:c.122G>A
ENST00000616050.3:c.276G>A
ENST00000629496.3:c.1528G>A	ENSP00000487224.1:p.Val510Met
ENST00000642161.1:n.3727G>A
ENST00000642322.1:c.970G>A	ENSP00000496052.1:p.Val324Met
ENST00000642424.1:c.970G>A	ENSP00000496356.1:p.Val324Met
ENST00000642589.1:n.4850G>A
ENST00000642597.1:n.1702G>A
ENST00000642687.1:n.1561G>A
ENST00000642722.1:n.2361G>A
ENST00000642763.1:n.2419G>A
ENST00000642793.1:c.*977G>A	ENSP00000493976.1:n.*977G>A
ENST00000642801.1:n.1177G>A
ENST00000643820.1:n.898G>A
ENST00000643963.1:c.*810G>A	ENSP00000495264.1:n.*810G>A
ENST00000644073.1:c.1486G>A	ENSP00000493475.1:p.Val496Met
ENST00000644074.1:c.1525G>A	ENSP00000496663.1:p.Val509Met
ENST00000644109.1:c.1690G>A	ENSP00000494952.1:p.Val564Met
ENST00000644307.1:n.1698G>A
ENST00000644513.1:c.1528G>A	ENSP00000493819.1:p.Val510Met
ENST00000644677.1:c.1411G>A	ENSP00000496524.1:p.Val471Met
ENST00000644876.2:c.1528G>A MANE Select	ENSP00000494040.1:p.Val510Met
ENST00000644958.1:n.3189G>A
ENST00000645080.1:c.*2750G>A	ENSP00000494767.1:n.*2750G>A
ENST00000645120.1:n.3023G>A
ENST00000645338.1:n.1698G>A
ENST00000645380.1:n.2992G>A
ENST00000645561.1:n.2704G>A
ENST00000645574.1:n.4392G>A
ENST00000645589.1:c.*27G>A	ENSP00000494588.1:n.*27G>A
ENST00000646107.1:c.1411G>A	ENSP00000494518.1:p.Val471Met
ENST00000646122.1:c.1528G>A	ENSP00000496222.1:p.Val510Met
ENST00000646196.1:n.2497G>A
ENST00000646223.1:c.*1521G>A	ENSP00000496043.1:n.*1521G>A
ENST00000646319.1:c.1528G>A	ENSP00000495377.1:p.Val510Met
ENST00000646390.1:n.3816G>A
ENST00000646627.1:c.970G>A	ENSP00000493795.1:p.Val324Met
ENST00000646679.1:c.970G>A	ENSP00000494887.1:p.Val324Met
ENST00000646822.1:n.2590G>A
ENST00000646940.1:n.1702G>A
ENST00000647286.1:n.1626G>A
ENST00000647477.1:n.267G>A
ENST00000399959.6:c.1528G>A	ENSP00000382840.2:p.Val510Met
ENST00000441189.3:c.341-1105G>A	ENSP00000414281.2:n.341-1105G>A
ENST00000457138.6:c.1480G>A	ENSP00000392494.2:p.Val494Met
ENST00000478993.5:c.1528G>A	ENSP00000478443.1:p.Val510Met
ENST00000542215.5:n.1576G>A
ENST00000616050.2:c.81G>A
ENST00000625837.2:c.1528G>A	ENSP00000486306.1:p.Val510Met
ENST00000626301.2:c.1528G>A	ENSP00000486443.1:p.Val510Met
ENST00000629496.2:c.1528G>A	ENSP00000487224.1:p.Val510Met
ENST00000629785.2:c.1528G>A	ENSP00000486516.1:p.Val510Met
ENST00000630255.2:c.1528G>A	ENSP00000486720.1:p.Val510Met
ENST00000630370.2:c.1528G>A	ENSP00000487062.1:p.Val510Met
ENST00000630858.2:c.1528G>A	ENSP00000486514.1:p.Val510Met
NM_001193416.2:c.1528G>A	NP_001180345.1:p.Val510Met
NM_001193417.2:c.1480G>A	NP_001180346.1:p.Val494Met
NM_001356.4:c.1528G>A	NP_001347.3:p.Val510Met
NR_126093.1:n.2473G>A
XM_011543892.1:c.1528G>A	XP_011542194.1:p.Val510Met
NM_001363819.1:c.970G>A	NP_001350748.1:p.Val324Met
XM_011543892.2:c.1528G>A	XP_011542194.1:p.Val510Met
XM_017029313.1:c.970G>A	XP_016884802.1:p.Val324Met
NM_001193416.3:c.1528G>A	NP_001180345.1:p.Val510Met
NM_001193417.3:c.1480G>A	NP_001180346.1:p.Val494Met
NM_001356.5:c.1528G>A MANE Select	NP_001347.3:p.Val510Met