Canonical Allele Identifier: CA412776196

Gene: DDX3X

Linked Data

• COSMIC: COSM5986461
• MyVariant Identifiers: chrX:g.41205779A>C (hg19) ; chrX:g.41346526A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346526A>C , CM000685.2:g.41346526A>C	GRCh38
NC_000023.10:g.41205779A>C , CM000685.1:g.41205779A>C	GRCh37
NC_000023.9:g.41090723A>C	NCBI36
NG_012830.1:g.18129A>C
NG_012830.2:g.18129A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1651A>C	ENSP00000496052.2:p.Ile551Leu
ENST00000399959.7:c.1516A>C	ENSP00000382840.3:p.Ile506Leu
ENST00000441189.4:c.1420A>C	ENSP00000414281.3:p.Ile474Leu
ENST00000457138.7:c.1471A>C	ENSP00000392494.2:p.Ile491Leu
ENST00000611968.2:c.113A>C
ENST00000616050.3:c.267A>C
ENST00000629496.3:c.1519A>C	ENSP00000487224.1:p.Ile507Leu
ENST00000642161.1:n.3718A>C
ENST00000642322.1:c.961A>C	ENSP00000496052.1:p.Ile321Leu
ENST00000642424.1:c.961A>C	ENSP00000496356.1:p.Ile321Leu
ENST00000642589.1:n.4841A>C
ENST00000642597.1:n.1693A>C
ENST00000642687.1:n.1552A>C
ENST00000642722.1:n.2352A>C
ENST00000642763.1:n.2410A>C
ENST00000642793.1:c.*968A>C	ENSP00000493976.1:n.*968A>C
ENST00000642801.1:n.1168A>C
ENST00000643820.1:n.889A>C
ENST00000643963.1:c.*801A>C	ENSP00000495264.1:n.*801A>C
ENST00000644073.1:c.1477A>C	ENSP00000493475.1:p.Ile493Leu
ENST00000644074.1:c.1516A>C	ENSP00000496663.1:p.Ile506Leu
ENST00000644109.1:c.1681A>C	ENSP00000494952.1:p.Ile561Leu
ENST00000644307.1:n.1689A>C
ENST00000644513.1:c.1519A>C	ENSP00000493819.1:p.Ile507Leu
ENST00000644677.1:c.1402A>C	ENSP00000496524.1:p.Ile468Leu
ENST00000644876.2:c.1519A>C MANE Select	ENSP00000494040.1:p.Ile507Leu
ENST00000644958.1:n.3180A>C
ENST00000645080.1:c.*2741A>C	ENSP00000494767.1:n.*2741A>C
ENST00000645120.1:n.3014A>C
ENST00000645338.1:n.1689A>C
ENST00000645380.1:n.2983A>C
ENST00000645561.1:n.2695A>C
ENST00000645574.1:n.4383A>C
ENST00000645589.1:c.*18A>C	ENSP00000494588.1:n.*18A>C
ENST00000646107.1:c.1402A>C	ENSP00000494518.1:p.Ile468Leu
ENST00000646122.1:c.1519A>C	ENSP00000496222.1:p.Ile507Leu
ENST00000646196.1:n.2488A>C
ENST00000646223.1:c.*1512A>C	ENSP00000496043.1:n.*1512A>C
ENST00000646319.1:c.1519A>C	ENSP00000495377.1:p.Ile507Leu
ENST00000646390.1:n.3807A>C
ENST00000646627.1:c.961A>C	ENSP00000493795.1:p.Ile321Leu
ENST00000646679.1:c.961A>C	ENSP00000494887.1:p.Ile321Leu
ENST00000646822.1:n.2581A>C
ENST00000646940.1:n.1693A>C
ENST00000647286.1:n.1617A>C
ENST00000647477.1:n.258A>C
ENST00000399959.6:c.1519A>C	ENSP00000382840.2:p.Ile507Leu
ENST00000441189.3:c.341-1114A>C	ENSP00000414281.2:n.341-1114A>C
ENST00000457138.6:c.1471A>C	ENSP00000392494.2:p.Ile491Leu
ENST00000478993.5:c.1519A>C	ENSP00000478443.1:p.Ile507Leu
ENST00000542215.5:n.1567A>C
ENST00000616050.2:c.72A>C
ENST00000625837.2:c.1519A>C	ENSP00000486306.1:p.Ile507Leu
ENST00000626301.2:c.1519A>C	ENSP00000486443.1:p.Ile507Leu
ENST00000629496.2:c.1519A>C	ENSP00000487224.1:p.Ile507Leu
ENST00000629785.2:c.1519A>C	ENSP00000486516.1:p.Ile507Leu
ENST00000630255.2:c.1519A>C	ENSP00000486720.1:p.Ile507Leu
ENST00000630370.2:c.1519A>C	ENSP00000487062.1:p.Ile507Leu
ENST00000630858.2:c.1519A>C	ENSP00000486514.1:p.Ile507Leu
NM_001193416.2:c.1519A>C	NP_001180345.1:p.Ile507Leu
NM_001193417.2:c.1471A>C	NP_001180346.1:p.Ile491Leu
NM_001356.4:c.1519A>C	NP_001347.3:p.Ile507Leu
NR_126093.1:n.2464A>C
XM_011543892.1:c.1519A>C	XP_011542194.1:p.Ile507Leu
NM_001363819.1:c.961A>C	NP_001350748.1:p.Ile321Leu
XM_011543892.2:c.1519A>C	XP_011542194.1:p.Ile507Leu
XM_017029313.1:c.961A>C	XP_016884802.1:p.Ile321Leu
NM_001193416.3:c.1519A>C	NP_001180345.1:p.Ile507Leu
NM_001193417.3:c.1471A>C	NP_001180346.1:p.Ile491Leu
NM_001356.5:c.1519A>C MANE Select	NP_001347.3:p.Ile507Leu