Canonical Allele Identifier: CA329020405

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1662985
• ClinVar RCV Id: RCV002200494
• dbSNP Id: rs757300927
• gnomAD v3: X-41344405-T-C
• gnomAD v4: X-41344405-T-C
• MyVariant Identifiers: chrX:g.41203658T>C (hg19) ; chrX:g.41344405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344405T>C , CM000685.2:g.41344405T>C	GRCh38
NC_000023.10:g.41203658T>C , CM000685.1:g.41203658T>C	GRCh37
NC_000023.9:g.41088602T>C	NCBI36
NG_012830.1:g.16008T>C
NG_012830.2:g.16008T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1157+6T>C	ENSP00000496052.2:n.1157+6T>C
ENST00000399959.7:c.1022+6T>C	ENSP00000382840.3:n.1022+6T>C
ENST00000441189.4:c.926+6T>C	ENSP00000414281.3:n.926+6T>C
ENST00000457138.7:c.977+6T>C	ENSP00000392494.2:n.977+6T>C
ENST00000629496.3:c.1025+6T>C	ENSP00000487224.1:n.1025+6T>C
ENST00000631641.2:n.1074T>C
ENST00000642161.1:n.3224+6T>C
ENST00000642322.1:c.467+6T>C	ENSP00000496052.1:n.467+6T>C
ENST00000642424.1:c.467+6T>C	ENSP00000496356.1:n.467+6T>C
ENST00000642589.1:n.4347+6T>C
ENST00000642597.1:n.1199+6T>C
ENST00000642687.1:n.1058+6T>C
ENST00000642722.1:n.1858+6T>C
ENST00000642763.1:n.1916+6T>C
ENST00000642793.1:c.*474+6T>C	ENSP00000493976.1:n.*474+6T>C
ENST00000642801.1:n.674+6T>C
ENST00000643820.1:n.301+6T>C
ENST00000643963.1:c.*307+6T>C	ENSP00000495264.1:n.*307+6T>C
ENST00000644073.1:c.983+6T>C	ENSP00000493475.1:n.983+6T>C
ENST00000644074.1:c.1022+6T>C	ENSP00000496663.1:n.1022+6T>C
ENST00000644109.1:c.1028T>C	ENSP00000494952.1:p.Val343Ala
ENST00000644307.1:n.1116+6T>C
ENST00000644513.1:c.1025+6T>C	ENSP00000493819.1:n.1025+6T>C
ENST00000644677.1:c.908+6T>C	ENSP00000496524.1:n.908+6T>C
ENST00000644876.2:c.1025+6T>C MANE Select	ENSP00000494040.1:n.1025+6T>C
ENST00000644958.1:n.2686+6T>C
ENST00000645080.1:c.*2247+6T>C	ENSP00000494767.1:n.*2247+6T>C
ENST00000645120.1:n.2520+6T>C
ENST00000645338.1:n.1116+6T>C
ENST00000645380.1:n.2410+6T>C
ENST00000645561.1:n.2201+6T>C
ENST00000645574.1:n.3889+6T>C
ENST00000645589.1:c.1025+6T>C	ENSP00000494588.1:n.1025+6T>C
ENST00000646093.1:n.209+6T>C
ENST00000646107.1:c.908+6T>C	ENSP00000494518.1:n.908+6T>C
ENST00000646122.1:c.1025+6T>C	ENSP00000496222.1:n.1025+6T>C
ENST00000646196.1:n.1994+6T>C
ENST00000646223.1:c.*1018+6T>C	ENSP00000496043.1:n.*1018+6T>C
ENST00000646319.1:c.1025+6T>C	ENSP00000495377.1:n.1025+6T>C
ENST00000646390.1:n.3313+6T>C
ENST00000646627.1:c.467+6T>C	ENSP00000493795.1:n.467+6T>C
ENST00000646679.1:c.467+6T>C	ENSP00000494887.1:n.467+6T>C
ENST00000646822.1:n.2087+6T>C
ENST00000646940.1:n.1199+6T>C
ENST00000647286.1:n.1123+6T>C
ENST00000399959.6:c.1025+6T>C	ENSP00000382840.2:n.1025+6T>C
ENST00000441189.3:c.340+1855T>C	ENSP00000414281.2:n.340+1855T>C
ENST00000457138.6:c.977+6T>C	ENSP00000392494.2:n.977+6T>C
ENST00000478993.5:c.1025+6T>C	ENSP00000478443.1:n.1025+6T>C
ENST00000542215.5:n.1073+6T>C
ENST00000625837.2:c.1025+6T>C	ENSP00000486306.1:n.1025+6T>C
ENST00000626301.2:c.1025+6T>C	ENSP00000486443.1:n.1025+6T>C
ENST00000629496.2:c.1025+6T>C	ENSP00000487224.1:n.1025+6T>C
ENST00000629785.2:c.1025+6T>C	ENSP00000486516.1:n.1025+6T>C
ENST00000630255.2:c.1025+6T>C	ENSP00000486720.1:n.1025+6T>C
ENST00000630370.2:c.1025+6T>C	ENSP00000487062.1:n.1025+6T>C
ENST00000630858.2:c.1025+6T>C	ENSP00000486514.1:n.1025+6T>C
NM_001193416.2:c.1025+6T>C	NP_001180345.1:n.1025+6T>C
NM_001193417.2:c.977+6T>C	NP_001180346.1:n.977+6T>C
NM_001356.4:c.1025+6T>C	NP_001347.3:n.1025+6T>C
NR_126093.1:n.1970+6T>C
XM_011543892.1:c.1025+6T>C	XP_011542194.1:n.1025+6T>C
NM_001363819.1:c.467+6T>C	NP_001350748.1:n.467+6T>C
XM_011543892.2:c.1025+6T>C	XP_011542194.1:n.1025+6T>C
XM_017029313.1:c.467+6T>C	XP_016884802.1:n.467+6T>C
NM_001193416.3:c.1025+6T>C	NP_001180345.1:n.1025+6T>C
NM_001193417.3:c.977+6T>C	NP_001180346.1:n.977+6T>C
NM_001356.5:c.1025+6T>C MANE Select	NP_001347.3:n.1025+6T>C