Canonical Allele Identifier: CA412771842

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41204708G>C (hg19) ; chrX:g.41345455G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345455G>C , CM000685.2:g.41345455G>C	GRCh38
NC_000023.10:g.41204708G>C , CM000685.1:g.41204708G>C	GRCh37
NC_000023.9:g.41089652G>C	NCBI36
NG_012830.1:g.17058G>C
NG_012830.2:g.17058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1354G>C	ENSP00000496052.2:p.Val452Leu
ENST00000399959.7:c.1219G>C	ENSP00000382840.3:p.Val407Leu
ENST00000441189.4:c.1123G>C	ENSP00000414281.3:p.Val375Leu
ENST00000457138.7:c.1174G>C	ENSP00000392494.2:p.Val392Leu
ENST00000629496.3:c.1222G>C	ENSP00000487224.1:p.Val408Leu
ENST00000642161.1:n.3421G>C
ENST00000642322.1:c.664G>C	ENSP00000496052.1:p.Val222Leu
ENST00000642424.1:c.664G>C	ENSP00000496356.1:p.Val222Leu
ENST00000642589.1:n.4544G>C
ENST00000642597.1:n.1396G>C
ENST00000642687.1:n.1255G>C
ENST00000642722.1:n.2055G>C
ENST00000642763.1:n.2113G>C
ENST00000642793.1:c.*671G>C	ENSP00000493976.1:n.*671G>C
ENST00000642801.1:n.871G>C
ENST00000643820.1:n.498G>C
ENST00000643963.1:c.*504G>C	ENSP00000495264.1:n.*504G>C
ENST00000644073.1:c.1180G>C	ENSP00000493475.1:p.Val394Leu
ENST00000644074.1:c.1219G>C	ENSP00000496663.1:p.Val407Leu
ENST00000644109.1:c.1384G>C	ENSP00000494952.1:p.Val462Leu
ENST00000644307.1:n.1392G>C
ENST00000644513.1:c.1222G>C	ENSP00000493819.1:p.Val408Leu
ENST00000644677.1:c.1105G>C	ENSP00000496524.1:p.Val369Leu
ENST00000644876.2:c.1222G>C MANE Select	ENSP00000494040.1:p.Val408Leu
ENST00000644958.1:n.2883G>C
ENST00000645080.1:c.*2444G>C	ENSP00000494767.1:n.*2444G>C
ENST00000645120.1:n.2717G>C
ENST00000645338.1:n.1392G>C
ENST00000645380.1:n.2686G>C
ENST00000645561.1:n.2398G>C
ENST00000645574.1:n.4086G>C
ENST00000645589.1:c.1222G>C	ENSP00000494588.1:p.Val408Leu
ENST00000646093.1:n.406G>C
ENST00000646107.1:c.1105G>C	ENSP00000494518.1:p.Val369Leu
ENST00000646122.1:c.1222G>C	ENSP00000496222.1:p.Val408Leu
ENST00000646196.1:n.2191G>C
ENST00000646223.1:c.*1215G>C	ENSP00000496043.1:n.*1215G>C
ENST00000646319.1:c.1222G>C	ENSP00000495377.1:p.Val408Leu
ENST00000646390.1:n.3510G>C
ENST00000646627.1:c.664G>C	ENSP00000493795.1:p.Val222Leu
ENST00000646679.1:c.664G>C	ENSP00000494887.1:p.Val222Leu
ENST00000646822.1:n.2284G>C
ENST00000646940.1:n.1396G>C
ENST00000647286.1:n.1320G>C
ENST00000399959.6:c.1222G>C	ENSP00000382840.2:p.Val408Leu
ENST00000441189.3:c.341-2185G>C	ENSP00000414281.2:n.341-2185G>C
ENST00000457138.6:c.1174G>C	ENSP00000392494.2:p.Val392Leu
ENST00000478993.5:c.1222G>C	ENSP00000478443.1:p.Val408Leu
ENST00000542215.5:n.1270G>C
ENST00000625837.2:c.1222G>C	ENSP00000486306.1:p.Val408Leu
ENST00000626301.2:c.1222G>C	ENSP00000486443.1:p.Val408Leu
ENST00000629496.2:c.1222G>C	ENSP00000487224.1:p.Val408Leu
ENST00000629785.2:c.1222G>C	ENSP00000486516.1:p.Val408Leu
ENST00000630255.2:c.1222G>C	ENSP00000486720.1:p.Val408Leu
ENST00000630370.2:c.1222G>C	ENSP00000487062.1:p.Val408Leu
ENST00000630858.2:c.1222G>C	ENSP00000486514.1:p.Val408Leu
NM_001193416.2:c.1222G>C	NP_001180345.1:p.Val408Leu
NM_001193417.2:c.1174G>C	NP_001180346.1:p.Val392Leu
NM_001356.4:c.1222G>C	NP_001347.3:p.Val408Leu
NR_126093.1:n.2167G>C
XM_011543892.1:c.1222G>C	XP_011542194.1:p.Val408Leu
NM_001363819.1:c.664G>C	NP_001350748.1:p.Val222Leu
XM_011543892.2:c.1222G>C	XP_011542194.1:p.Val408Leu
XM_017029313.1:c.664G>C	XP_016884802.1:p.Val222Leu
NM_001193416.3:c.1222G>C	NP_001180345.1:p.Val408Leu
NM_001193417.3:c.1174G>C	NP_001180346.1:p.Val392Leu
NM_001356.5:c.1222G>C MANE Select	NP_001347.3:p.Val408Leu