Canonical Allele Identifier: CA412776104

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1971584
• ClinVar RCV Id: RCV002740851
• COSMIC: COSM23525
• MyVariant Identifiers: chrX:g.41205764G>A (hg19) ; chrX:g.41346511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346511G>A , CM000685.2:g.41346511G>A	GRCh38
NC_000023.10:g.41205764G>A , CM000685.1:g.41205764G>A	GRCh37
NC_000023.9:g.41090708G>A	NCBI36
NG_012830.1:g.18114G>A
NG_012830.2:g.18114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1636G>A	ENSP00000496052.2:p.Ala546Thr
ENST00000399959.7:c.1501G>A	ENSP00000382840.3:p.Ala501Thr
ENST00000441189.4:c.1405G>A	ENSP00000414281.3:p.Ala469Thr
ENST00000457138.7:c.1456G>A	ENSP00000392494.2:p.Ala486Thr
ENST00000611968.2:c.98G>A
ENST00000616050.3:c.252G>A
ENST00000629496.3:c.1504G>A	ENSP00000487224.1:p.Ala502Thr
ENST00000642161.1:n.3703G>A
ENST00000642322.1:c.946G>A	ENSP00000496052.1:p.Ala316Thr
ENST00000642424.1:c.946G>A	ENSP00000496356.1:p.Ala316Thr
ENST00000642589.1:n.4826G>A
ENST00000642597.1:n.1678G>A
ENST00000642687.1:n.1537G>A
ENST00000642722.1:n.2337G>A
ENST00000642763.1:n.2395G>A
ENST00000642793.1:c.*953G>A	ENSP00000493976.1:n.*953G>A
ENST00000642801.1:n.1153G>A
ENST00000643820.1:n.874G>A
ENST00000643963.1:c.*786G>A	ENSP00000495264.1:n.*786G>A
ENST00000644073.1:c.1462G>A	ENSP00000493475.1:p.Ala488Thr
ENST00000644074.1:c.1501G>A	ENSP00000496663.1:p.Ala501Thr
ENST00000644109.1:c.1666G>A	ENSP00000494952.1:p.Ala556Thr
ENST00000644307.1:n.1674G>A
ENST00000644513.1:c.1504G>A	ENSP00000493819.1:p.Ala502Thr
ENST00000644677.1:c.1387G>A	ENSP00000496524.1:p.Ala463Thr
ENST00000644876.2:c.1504G>A MANE Select	ENSP00000494040.1:p.Ala502Thr
ENST00000644958.1:n.3165G>A
ENST00000645080.1:c.*2726G>A	ENSP00000494767.1:n.*2726G>A
ENST00000645120.1:n.2999G>A
ENST00000645338.1:n.1674G>A
ENST00000645380.1:n.2968G>A
ENST00000645561.1:n.2680G>A
ENST00000645574.1:n.4368G>A
ENST00000645589.1:c.*3G>A	ENSP00000494588.1:n.*3G>A
ENST00000646107.1:c.1387G>A	ENSP00000494518.1:p.Ala463Thr
ENST00000646122.1:c.1504G>A	ENSP00000496222.1:p.Ala502Thr
ENST00000646196.1:n.2473G>A
ENST00000646223.1:c.*1497G>A	ENSP00000496043.1:n.*1497G>A
ENST00000646319.1:c.1504G>A	ENSP00000495377.1:p.Ala502Thr
ENST00000646390.1:n.3792G>A
ENST00000646627.1:c.946G>A	ENSP00000493795.1:p.Ala316Thr
ENST00000646679.1:c.946G>A	ENSP00000494887.1:p.Ala316Thr
ENST00000646822.1:n.2566G>A
ENST00000646940.1:n.1678G>A
ENST00000647286.1:n.1602G>A
ENST00000647477.1:n.243G>A
ENST00000399959.6:c.1504G>A	ENSP00000382840.2:p.Ala502Thr
ENST00000441189.3:c.341-1129G>A	ENSP00000414281.2:n.341-1129G>A
ENST00000457138.6:c.1456G>A	ENSP00000392494.2:p.Ala486Thr
ENST00000478993.5:c.1504G>A	ENSP00000478443.1:p.Ala502Thr
ENST00000542215.5:n.1552G>A
ENST00000616050.2:c.57G>A
ENST00000625837.2:c.1504G>A	ENSP00000486306.1:p.Ala502Thr
ENST00000626301.2:c.1504G>A	ENSP00000486443.1:p.Ala502Thr
ENST00000629496.2:c.1504G>A	ENSP00000487224.1:p.Ala502Thr
ENST00000629785.2:c.1504G>A	ENSP00000486516.1:p.Ala502Thr
ENST00000630255.2:c.1504G>A	ENSP00000486720.1:p.Ala502Thr
ENST00000630370.2:c.1504G>A	ENSP00000487062.1:p.Ala502Thr
ENST00000630858.2:c.1504G>A	ENSP00000486514.1:p.Ala502Thr
NM_001193416.2:c.1504G>A	NP_001180345.1:p.Ala502Thr
NM_001193417.2:c.1456G>A	NP_001180346.1:p.Ala486Thr
NM_001356.4:c.1504G>A	NP_001347.3:p.Ala502Thr
NR_126093.1:n.2449G>A
XM_011543892.1:c.1504G>A	XP_011542194.1:p.Ala502Thr
NM_001363819.1:c.946G>A	NP_001350748.1:p.Ala316Thr
XM_011543892.2:c.1504G>A	XP_011542194.1:p.Ala502Thr
XM_017029313.1:c.946G>A	XP_016884802.1:p.Ala316Thr
NM_001193416.3:c.1504G>A	NP_001180345.1:p.Ala502Thr
NM_001193417.3:c.1456G>A	NP_001180346.1:p.Ala486Thr
NM_001356.5:c.1504G>A MANE Select	NP_001347.3:p.Ala502Thr