Canonical Allele Identifier: CA412776563

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41205806T>G (hg19) ; chrX:g.41346553T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346553T>G , CM000685.2:g.41346553T>G	GRCh38
NC_000023.10:g.41205806T>G , CM000685.1:g.41205806T>G	GRCh37
NC_000023.9:g.41090750T>G	NCBI36
NG_012830.1:g.18156T>G
NG_012830.2:g.18156T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1678T>G	ENSP00000496052.2:p.Phe560Val
ENST00000399959.7:c.1543T>G	ENSP00000382840.3:p.Phe515Val
ENST00000441189.4:c.1447T>G	ENSP00000414281.3:p.Phe483Val
ENST00000457138.7:c.1498T>G	ENSP00000392494.2:p.Phe500Val
ENST00000611968.2:c.140T>G
ENST00000616050.3:c.294T>G
ENST00000629496.3:c.1546T>G	ENSP00000487224.1:p.Phe516Val
ENST00000642161.1:n.3745T>G
ENST00000642322.1:c.988T>G	ENSP00000496052.1:p.Phe330Val
ENST00000642424.1:c.988T>G	ENSP00000496356.1:p.Phe330Val
ENST00000642589.1:n.4868T>G
ENST00000642597.1:n.1720T>G
ENST00000642687.1:n.1579T>G
ENST00000642722.1:n.2379T>G
ENST00000642763.1:n.2437T>G
ENST00000642793.1:c.*995T>G	ENSP00000493976.1:n.*995T>G
ENST00000642801.1:n.1195T>G
ENST00000643820.1:n.916T>G
ENST00000643963.1:c.*828T>G	ENSP00000495264.1:n.*828T>G
ENST00000644073.1:c.1504T>G	ENSP00000493475.1:p.Phe502Val
ENST00000644074.1:c.1543T>G	ENSP00000496663.1:p.Phe515Val
ENST00000644109.1:c.1708T>G	ENSP00000494952.1:p.Phe570Val
ENST00000644307.1:n.1716T>G
ENST00000644513.1:c.1546T>G	ENSP00000493819.1:p.Phe516Val
ENST00000644677.1:c.1429T>G	ENSP00000496524.1:p.Phe477Val
ENST00000644876.2:c.1546T>G MANE Select	ENSP00000494040.1:p.Phe516Val
ENST00000644958.1:n.3207T>G
ENST00000645080.1:c.*2768T>G	ENSP00000494767.1:n.*2768T>G
ENST00000645120.1:n.3041T>G
ENST00000645338.1:n.1716T>G
ENST00000645380.1:n.3010T>G
ENST00000645561.1:n.2722T>G
ENST00000645574.1:n.4410T>G
ENST00000645589.1:c.*45T>G	ENSP00000494588.1:n.*45T>G
ENST00000646107.1:c.1429T>G	ENSP00000494518.1:p.Phe477Val
ENST00000646122.1:c.1546T>G	ENSP00000496222.1:p.Phe516Val
ENST00000646196.1:n.2515T>G
ENST00000646223.1:c.*1539T>G	ENSP00000496043.1:n.*1539T>G
ENST00000646319.1:c.1546T>G	ENSP00000495377.1:p.Phe516Val
ENST00000646390.1:n.3834T>G
ENST00000646627.1:c.988T>G	ENSP00000493795.1:p.Phe330Val
ENST00000646679.1:c.988T>G	ENSP00000494887.1:p.Phe330Val
ENST00000646822.1:n.2608T>G
ENST00000646940.1:n.1720T>G
ENST00000647286.1:n.1644T>G
ENST00000647477.1:n.285T>G
ENST00000399959.6:c.1546T>G	ENSP00000382840.2:p.Phe516Val
ENST00000441189.3:c.341-1087T>G	ENSP00000414281.2:n.341-1087T>G
ENST00000457138.6:c.1498T>G	ENSP00000392494.2:p.Phe500Val
ENST00000478993.5:c.1546T>G	ENSP00000478443.1:p.Phe516Val
ENST00000616050.2:c.99T>G
ENST00000625837.2:c.1546T>G	ENSP00000486306.1:p.Phe516Val
ENST00000626301.2:c.1546T>G	ENSP00000486443.1:p.Phe516Val
ENST00000629496.2:c.1546T>G	ENSP00000487224.1:p.Phe516Val
ENST00000629785.2:c.1546T>G	ENSP00000486516.1:p.Phe516Val
ENST00000630255.2:c.1546T>G	ENSP00000486720.1:p.Phe516Val
ENST00000630370.2:c.1546T>G	ENSP00000487062.1:p.Phe516Val
ENST00000630858.2:c.1546T>G	ENSP00000486514.1:p.Phe516Val
NM_001193416.2:c.1546T>G	NP_001180345.1:p.Phe516Val
NM_001193417.2:c.1498T>G	NP_001180346.1:p.Phe500Val
NM_001356.4:c.1546T>G	NP_001347.3:p.Phe516Val
NR_126093.1:n.2491T>G
XM_011543892.1:c.1546T>G	XP_011542194.1:p.Phe516Val
NM_001363819.1:c.988T>G	NP_001350748.1:p.Phe330Val
XM_011543892.2:c.1546T>G	XP_011542194.1:p.Phe516Val
XM_017029313.1:c.988T>G	XP_016884802.1:p.Phe330Val
NM_001193416.3:c.1546T>G	NP_001180345.1:p.Phe516Val
NM_001193417.3:c.1498T>G	NP_001180346.1:p.Phe500Val
NM_001356.5:c.1546T>G MANE Select	NP_001347.3:p.Phe516Val