Canonical Allele Identifier: CA412776359

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1012216
• ClinVar RCV Id: RCV001310221 ; RCV003886501
• dbSNP Id: rs2063927856
• MyVariant Identifiers: chrX:g.41205797G>C (hg19) ; chrX:g.41346544G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346544G>C , CM000685.2:g.41346544G>C	GRCh38
NC_000023.10:g.41205797G>C , CM000685.1:g.41205797G>C	GRCh37
NC_000023.9:g.41090741G>C	NCBI36
NG_012830.1:g.18147G>C
NG_012830.2:g.18147G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1669G>C	ENSP00000496052.2:p.Val557Leu
ENST00000399959.7:c.1534G>C	ENSP00000382840.3:p.Val512Leu
ENST00000441189.4:c.1438G>C	ENSP00000414281.3:p.Val480Leu
ENST00000457138.7:c.1489G>C	ENSP00000392494.2:p.Val497Leu
ENST00000611968.2:c.131G>C
ENST00000616050.3:c.285G>C
ENST00000629496.3:c.1537G>C	ENSP00000487224.1:p.Val513Leu
ENST00000642161.1:n.3736G>C
ENST00000642322.1:c.979G>C	ENSP00000496052.1:p.Val327Leu
ENST00000642424.1:c.979G>C	ENSP00000496356.1:p.Val327Leu
ENST00000642589.1:n.4859G>C
ENST00000642597.1:n.1711G>C
ENST00000642687.1:n.1570G>C
ENST00000642722.1:n.2370G>C
ENST00000642763.1:n.2428G>C
ENST00000642793.1:c.*986G>C	ENSP00000493976.1:n.*986G>C
ENST00000642801.1:n.1186G>C
ENST00000643820.1:n.907G>C
ENST00000643963.1:c.*819G>C	ENSP00000495264.1:n.*819G>C
ENST00000644073.1:c.1495G>C	ENSP00000493475.1:p.Val499Leu
ENST00000644074.1:c.1534G>C	ENSP00000496663.1:p.Val512Leu
ENST00000644109.1:c.1699G>C	ENSP00000494952.1:p.Val567Leu
ENST00000644307.1:n.1707G>C
ENST00000644513.1:c.1537G>C	ENSP00000493819.1:p.Val513Leu
ENST00000644677.1:c.1420G>C	ENSP00000496524.1:p.Val474Leu
ENST00000644876.2:c.1537G>C MANE Select	ENSP00000494040.1:p.Val513Leu
ENST00000644958.1:n.3198G>C
ENST00000645080.1:c.*2759G>C	ENSP00000494767.1:n.*2759G>C
ENST00000645120.1:n.3032G>C
ENST00000645338.1:n.1707G>C
ENST00000645380.1:n.3001G>C
ENST00000645561.1:n.2713G>C
ENST00000645574.1:n.4401G>C
ENST00000645589.1:c.*36G>C	ENSP00000494588.1:n.*36G>C
ENST00000646107.1:c.1420G>C	ENSP00000494518.1:p.Val474Leu
ENST00000646122.1:c.1537G>C	ENSP00000496222.1:p.Val513Leu
ENST00000646196.1:n.2506G>C
ENST00000646223.1:c.*1530G>C	ENSP00000496043.1:n.*1530G>C
ENST00000646319.1:c.1537G>C	ENSP00000495377.1:p.Val513Leu
ENST00000646390.1:n.3825G>C
ENST00000646627.1:c.979G>C	ENSP00000493795.1:p.Val327Leu
ENST00000646679.1:c.979G>C	ENSP00000494887.1:p.Val327Leu
ENST00000646822.1:n.2599G>C
ENST00000646940.1:n.1711G>C
ENST00000647286.1:n.1635G>C
ENST00000647477.1:n.276G>C
ENST00000399959.6:c.1537G>C	ENSP00000382840.2:p.Val513Leu
ENST00000441189.3:c.341-1096G>C	ENSP00000414281.2:n.341-1096G>C
ENST00000457138.6:c.1489G>C	ENSP00000392494.2:p.Val497Leu
ENST00000478993.5:c.1537G>C	ENSP00000478443.1:p.Val513Leu
ENST00000542215.5:n.1585G>C
ENST00000616050.2:c.90G>C
ENST00000625837.2:c.1537G>C	ENSP00000486306.1:p.Val513Leu
ENST00000626301.2:c.1537G>C	ENSP00000486443.1:p.Val513Leu
ENST00000629496.2:c.1537G>C	ENSP00000487224.1:p.Val513Leu
ENST00000629785.2:c.1537G>C	ENSP00000486516.1:p.Val513Leu
ENST00000630255.2:c.1537G>C	ENSP00000486720.1:p.Val513Leu
ENST00000630370.2:c.1537G>C	ENSP00000487062.1:p.Val513Leu
ENST00000630858.2:c.1537G>C	ENSP00000486514.1:p.Val513Leu
NM_001193416.2:c.1537G>C	NP_001180345.1:p.Val513Leu
NM_001193417.2:c.1489G>C	NP_001180346.1:p.Val497Leu
NM_001356.4:c.1537G>C	NP_001347.3:p.Val513Leu
NR_126093.1:n.2482G>C
XM_011543892.1:c.1537G>C	XP_011542194.1:p.Val513Leu
NM_001363819.1:c.979G>C	NP_001350748.1:p.Val327Leu
XM_011543892.2:c.1537G>C	XP_011542194.1:p.Val513Leu
XM_017029313.1:c.979G>C	XP_016884802.1:p.Val327Leu
NM_001193416.3:c.1537G>C	NP_001180345.1:p.Val513Leu
NM_001193417.3:c.1489G>C	NP_001180346.1:p.Val497Leu
NM_001356.5:c.1537G>C MANE Select	NP_001347.3:p.Val513Leu