Canonical Allele Identifier: CA10389667

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1204023
• ClinVar RCV Id: RCV001570265
• dbSNP Id: rs761401204
• ExAC: X:41205853 T / C
• gnomAD v2: X-41205853-T-C
• gnomAD v3: X-41346600-T-C
• gnomAD v4: X-41346600-T-C
• MyVariant Identifiers: chrX:g.41205853T>C (hg19) ; chrX:g.41346600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346600T>C , CM000685.2:g.41346600T>C	GRCh38
NC_000023.10:g.41205853T>C , CM000685.1:g.41205853T>C	GRCh37
NC_000023.9:g.41090797T>C	NCBI36
NG_012830.1:g.18203T>C
NG_012830.2:g.18203T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1725T>C	ENSP00000496052.2:p.Arg575=
ENST00000399959.7:c.1590T>C	ENSP00000382840.3:p.Arg530=
ENST00000441189.4:c.1494T>C	ENSP00000414281.3:p.Arg498=
ENST00000457138.7:c.1545T>C	ENSP00000392494.2:p.Arg515=
ENST00000611968.2:c.187T>C
ENST00000616050.3:c.341T>C
ENST00000629496.3:c.1593T>C	ENSP00000487224.1:p.Arg531=
ENST00000642161.1:n.3792T>C
ENST00000642322.1:c.1035T>C	ENSP00000496052.1:p.Arg345=
ENST00000642424.1:c.1035T>C	ENSP00000496356.1:p.Arg345=
ENST00000642589.1:n.4915T>C
ENST00000642597.1:n.1767T>C
ENST00000642687.1:n.1626T>C
ENST00000642722.1:n.2426T>C
ENST00000642763.1:n.2484T>C
ENST00000642793.1:c.*1042T>C	ENSP00000493976.1:n.*1042T>C
ENST00000642801.1:n.1242T>C
ENST00000643820.1:n.963T>C
ENST00000643963.1:c.*875T>C	ENSP00000495264.1:n.*875T>C
ENST00000644073.1:c.1551T>C	ENSP00000493475.1:p.Arg517=
ENST00000644074.1:c.1590T>C	ENSP00000496663.1:p.Arg530=
ENST00000644109.1:c.1755T>C	ENSP00000494952.1:p.Arg585=
ENST00000644307.1:n.1763T>C
ENST00000644513.1:c.1593T>C	ENSP00000493819.1:p.Arg531=
ENST00000644677.1:c.1476T>C	ENSP00000496524.1:p.Arg492=
ENST00000644876.2:c.1593T>C MANE Select	ENSP00000494040.1:p.Arg531=
ENST00000644958.1:n.3254T>C
ENST00000645080.1:c.*2815T>C	ENSP00000494767.1:n.*2815T>C
ENST00000645120.1:n.3088T>C
ENST00000645338.1:n.1763T>C
ENST00000645380.1:n.3057T>C
ENST00000645561.1:n.2769T>C
ENST00000645574.1:n.4457T>C
ENST00000645589.1:c.*92T>C	ENSP00000494588.1:n.*92T>C
ENST00000646107.1:c.1476T>C	ENSP00000494518.1:p.Arg492=
ENST00000646122.1:c.1593T>C	ENSP00000496222.1:p.Arg531=
ENST00000646196.1:n.2562T>C
ENST00000646223.1:c.*1586T>C	ENSP00000496043.1:n.*1586T>C
ENST00000646319.1:c.1593T>C	ENSP00000495377.1:p.Arg531=
ENST00000646390.1:n.3881T>C
ENST00000646627.1:c.1035T>C	ENSP00000493795.1:p.Arg345=
ENST00000646679.1:c.1035T>C	ENSP00000494887.1:p.Arg345=
ENST00000646822.1:n.2655T>C
ENST00000646940.1:n.1767T>C
ENST00000647286.1:n.1691T>C
ENST00000647477.1:n.332T>C
ENST00000399959.6:c.1593T>C	ENSP00000382840.2:p.Arg531=
ENST00000441189.3:c.341-1040T>C	ENSP00000414281.2:n.341-1040T>C
ENST00000457138.6:c.1545T>C	ENSP00000392494.2:p.Arg515=
ENST00000478993.5:c.1593T>C	ENSP00000478443.1:p.Arg531=
ENST00000611968.1:c.35T>C
ENST00000616050.2:c.146T>C
ENST00000625837.2:c.1593T>C	ENSP00000486306.1:p.Arg531=
ENST00000626301.2:c.1593T>C	ENSP00000486443.1:p.Arg531=
ENST00000629496.2:c.1593T>C	ENSP00000487224.1:p.Arg531=
ENST00000629785.2:c.1593T>C	ENSP00000486516.1:p.Arg531=
ENST00000630255.2:c.1593T>C	ENSP00000486720.1:p.Arg531=
ENST00000630370.2:c.1593T>C	ENSP00000487062.1:p.Arg531=
ENST00000630858.2:c.1593T>C	ENSP00000486514.1:p.Arg531=
NM_001193416.2:c.1593T>C	NP_001180345.1:p.Arg531=
NM_001193417.2:c.1545T>C	NP_001180346.1:p.Arg515=
NM_001356.4:c.1593T>C	NP_001347.3:p.Arg531=
NR_126093.1:n.2538T>C
XM_011543892.1:c.1593T>C	XP_011542194.1:p.Arg531=
NM_001363819.1:c.1035T>C	NP_001350748.1:p.Arg345=
XM_011543892.2:c.1593T>C	XP_011542194.1:p.Arg531=
XM_017029313.1:c.1035T>C	XP_016884802.1:p.Arg345=
NM_001193416.3:c.1593T>C	NP_001180345.1:p.Arg531=
NM_001193417.3:c.1545T>C	NP_001180346.1:p.Arg515=
NM_001356.5:c.1593T>C MANE Select	NP_001347.3:p.Arg531=