Canonical Allele Identifier: CA10389664

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1991812
• ClinVar RCV Id: RCV002790905
• dbSNP Id: rs766409654
• ExAC: X:41205835 T / C
• gnomAD v2: X-41205835-T-C
• gnomAD v3: X-41346582-T-C
• gnomAD v4: X-41346582-T-C
• MyVariant Identifiers: chrX:g.41205835T>C (hg19) ; chrX:g.41346582T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346582T>C , CM000685.2:g.41346582T>C	GRCh38
NC_000023.10:g.41205835T>C , CM000685.1:g.41205835T>C	GRCh37
NC_000023.9:g.41090779T>C	NCBI36
NG_012830.1:g.18185T>C
NG_012830.2:g.18185T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1707T>C	ENSP00000496052.2:p.Tyr569=
ENST00000399959.7:c.1572T>C	ENSP00000382840.3:p.Tyr524=
ENST00000441189.4:c.1476T>C	ENSP00000414281.3:p.Tyr492=
ENST00000457138.7:c.1527T>C	ENSP00000392494.2:p.Tyr509=
ENST00000611968.2:c.169T>C
ENST00000616050.3:c.323T>C
ENST00000629496.3:c.1575T>C	ENSP00000487224.1:p.Tyr525=
ENST00000642161.1:n.3774T>C
ENST00000642322.1:c.1017T>C	ENSP00000496052.1:p.Tyr339=
ENST00000642424.1:c.1017T>C	ENSP00000496356.1:p.Tyr339=
ENST00000642589.1:n.4897T>C
ENST00000642597.1:n.1749T>C
ENST00000642687.1:n.1608T>C
ENST00000642722.1:n.2408T>C
ENST00000642763.1:n.2466T>C
ENST00000642793.1:c.*1024T>C	ENSP00000493976.1:n.*1024T>C
ENST00000642801.1:n.1224T>C
ENST00000643820.1:n.945T>C
ENST00000643963.1:c.*857T>C	ENSP00000495264.1:n.*857T>C
ENST00000644073.1:c.1533T>C	ENSP00000493475.1:p.Tyr511=
ENST00000644074.1:c.1572T>C	ENSP00000496663.1:p.Tyr524=
ENST00000644109.1:c.1737T>C	ENSP00000494952.1:p.Tyr579=
ENST00000644307.1:n.1745T>C
ENST00000644513.1:c.1575T>C	ENSP00000493819.1:p.Tyr525=
ENST00000644677.1:c.1458T>C	ENSP00000496524.1:p.Tyr486=
ENST00000644876.2:c.1575T>C MANE Select	ENSP00000494040.1:p.Tyr525=
ENST00000644958.1:n.3236T>C
ENST00000645080.1:c.*2797T>C	ENSP00000494767.1:n.*2797T>C
ENST00000645120.1:n.3070T>C
ENST00000645338.1:n.1745T>C
ENST00000645380.1:n.3039T>C
ENST00000645561.1:n.2751T>C
ENST00000645574.1:n.4439T>C
ENST00000645589.1:c.*74T>C	ENSP00000494588.1:n.*74T>C
ENST00000646107.1:c.1458T>C	ENSP00000494518.1:p.Tyr486=
ENST00000646122.1:c.1575T>C	ENSP00000496222.1:p.Tyr525=
ENST00000646196.1:n.2544T>C
ENST00000646223.1:c.*1568T>C	ENSP00000496043.1:n.*1568T>C
ENST00000646319.1:c.1575T>C	ENSP00000495377.1:p.Tyr525=
ENST00000646390.1:n.3863T>C
ENST00000646627.1:c.1017T>C	ENSP00000493795.1:p.Tyr339=
ENST00000646679.1:c.1017T>C	ENSP00000494887.1:p.Tyr339=
ENST00000646822.1:n.2637T>C
ENST00000646940.1:n.1749T>C
ENST00000647286.1:n.1673T>C
ENST00000647477.1:n.314T>C
ENST00000399959.6:c.1575T>C	ENSP00000382840.2:p.Tyr525=
ENST00000441189.3:c.341-1058T>C	ENSP00000414281.2:n.341-1058T>C
ENST00000457138.6:c.1527T>C	ENSP00000392494.2:p.Tyr509=
ENST00000478993.5:c.1575T>C	ENSP00000478443.1:p.Tyr525=
ENST00000611968.1:c.17T>C
ENST00000616050.2:c.128T>C
ENST00000625837.2:c.1575T>C	ENSP00000486306.1:p.Tyr525=
ENST00000626301.2:c.1575T>C	ENSP00000486443.1:p.Tyr525=
ENST00000629496.2:c.1575T>C	ENSP00000487224.1:p.Tyr525=
ENST00000629785.2:c.1575T>C	ENSP00000486516.1:p.Tyr525=
ENST00000630255.2:c.1575T>C	ENSP00000486720.1:p.Tyr525=
ENST00000630370.2:c.1575T>C	ENSP00000487062.1:p.Tyr525=
ENST00000630858.2:c.1575T>C	ENSP00000486514.1:p.Tyr525=
NM_001193416.2:c.1575T>C	NP_001180345.1:p.Tyr525=
NM_001193417.2:c.1527T>C	NP_001180346.1:p.Tyr509=
NM_001356.4:c.1575T>C	NP_001347.3:p.Tyr525=
NR_126093.1:n.2520T>C
XM_011543892.1:c.1575T>C	XP_011542194.1:p.Tyr525=
NM_001363819.1:c.1017T>C	NP_001350748.1:p.Tyr339=
XM_011543892.2:c.1575T>C	XP_011542194.1:p.Tyr525=
XM_017029313.1:c.1017T>C	XP_016884802.1:p.Tyr339=
NM_001193416.3:c.1575T>C	NP_001180345.1:p.Tyr525=
NM_001193417.3:c.1527T>C	NP_001180346.1:p.Tyr509=
NM_001356.5:c.1575T>C MANE Select	NP_001347.3:p.Tyr525=