Canonical Allele Identifier: CA412776099

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41205762C>T (hg19) ; chrX:g.41346509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346509C>T , CM000685.2:g.41346509C>T	GRCh38
NC_000023.10:g.41205762C>T , CM000685.1:g.41205762C>T	GRCh37
NC_000023.9:g.41090706C>T	NCBI36
NG_012830.1:g.18112C>T
NG_012830.2:g.18112C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1634C>T	ENSP00000496052.2:p.Ala545Val
ENST00000399959.7:c.1499C>T	ENSP00000382840.3:p.Ala500Val
ENST00000441189.4:c.1403C>T	ENSP00000414281.3:p.Ala468Val
ENST00000457138.7:c.1454C>T	ENSP00000392494.2:p.Ala485Val
ENST00000611968.2:c.96C>T
ENST00000616050.3:c.250C>T
ENST00000629496.3:c.1502C>T	ENSP00000487224.1:p.Ala501Val
ENST00000642161.1:n.3701C>T
ENST00000642322.1:c.944C>T	ENSP00000496052.1:p.Ala315Val
ENST00000642424.1:c.944C>T	ENSP00000496356.1:p.Ala315Val
ENST00000642589.1:n.4824C>T
ENST00000642597.1:n.1676C>T
ENST00000642687.1:n.1535C>T
ENST00000642722.1:n.2335C>T
ENST00000642763.1:n.2393C>T
ENST00000642793.1:c.*951C>T	ENSP00000493976.1:n.*951C>T
ENST00000642801.1:n.1151C>T
ENST00000643820.1:n.872C>T
ENST00000643963.1:c.*784C>T	ENSP00000495264.1:n.*784C>T
ENST00000644073.1:c.1460C>T	ENSP00000493475.1:p.Ala487Val
ENST00000644074.1:c.1499C>T	ENSP00000496663.1:p.Ala500Val
ENST00000644109.1:c.1664C>T	ENSP00000494952.1:p.Ala555Val
ENST00000644307.1:n.1672C>T
ENST00000644513.1:c.1502C>T	ENSP00000493819.1:p.Ala501Val
ENST00000644677.1:c.1385C>T	ENSP00000496524.1:p.Ala462Val
ENST00000644876.2:c.1502C>T MANE Select	ENSP00000494040.1:p.Ala501Val
ENST00000644958.1:n.3163C>T
ENST00000645080.1:c.*2724C>T	ENSP00000494767.1:n.*2724C>T
ENST00000645120.1:n.2997C>T
ENST00000645338.1:n.1672C>T
ENST00000645380.1:n.2966C>T
ENST00000645561.1:n.2678C>T
ENST00000645574.1:n.4366C>T
ENST00000645589.1:c.*1C>T	ENSP00000494588.1:n.*1C>T
ENST00000646107.1:c.1385C>T	ENSP00000494518.1:p.Ala462Val
ENST00000646122.1:c.1502C>T	ENSP00000496222.1:p.Ala501Val
ENST00000646196.1:n.2471C>T
ENST00000646223.1:c.*1495C>T	ENSP00000496043.1:n.*1495C>T
ENST00000646319.1:c.1502C>T	ENSP00000495377.1:p.Ala501Val
ENST00000646390.1:n.3790C>T
ENST00000646627.1:c.944C>T	ENSP00000493795.1:p.Ala315Val
ENST00000646679.1:c.944C>T	ENSP00000494887.1:p.Ala315Val
ENST00000646822.1:n.2564C>T
ENST00000646940.1:n.1676C>T
ENST00000647286.1:n.1600C>T
ENST00000647477.1:n.241C>T
ENST00000399959.6:c.1502C>T	ENSP00000382840.2:p.Ala501Val
ENST00000441189.3:c.341-1131C>T	ENSP00000414281.2:n.341-1131C>T
ENST00000457138.6:c.1454C>T	ENSP00000392494.2:p.Ala485Val
ENST00000478993.5:c.1502C>T	ENSP00000478443.1:p.Ala501Val
ENST00000542215.5:n.1550C>T
ENST00000616050.2:c.55C>T
ENST00000625837.2:c.1502C>T	ENSP00000486306.1:p.Ala501Val
ENST00000626301.2:c.1502C>T	ENSP00000486443.1:p.Ala501Val
ENST00000629496.2:c.1502C>T	ENSP00000487224.1:p.Ala501Val
ENST00000629785.2:c.1502C>T	ENSP00000486516.1:p.Ala501Val
ENST00000630255.2:c.1502C>T	ENSP00000486720.1:p.Ala501Val
ENST00000630370.2:c.1502C>T	ENSP00000487062.1:p.Ala501Val
ENST00000630858.2:c.1502C>T	ENSP00000486514.1:p.Ala501Val
NM_001193416.2:c.1502C>T	NP_001180345.1:p.Ala501Val
NM_001193417.2:c.1454C>T	NP_001180346.1:p.Ala485Val
NM_001356.4:c.1502C>T	NP_001347.3:p.Ala501Val
NR_126093.1:n.2447C>T
XM_011543892.1:c.1502C>T	XP_011542194.1:p.Ala501Val
NM_001363819.1:c.944C>T	NP_001350748.1:p.Ala315Val
XM_011543892.2:c.1502C>T	XP_011542194.1:p.Ala501Val
XM_017029313.1:c.944C>T	XP_016884802.1:p.Ala315Val
NM_001193416.3:c.1502C>T	NP_001180345.1:p.Ala501Val
NM_001193417.3:c.1454C>T	NP_001180346.1:p.Ala485Val
NM_001356.5:c.1502C>T MANE Select	NP_001347.3:p.Ala501Val