Canonical Allele Identifier: CA412771615

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2572467
• ClinVar RCV Id: RCV003314352
• MyVariant Identifiers: chrX:g.41204663G>C (hg19) ; chrX:g.41345410G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345410G>C , CM000685.2:g.41345410G>C	GRCh38
NC_000023.10:g.41204663G>C , CM000685.1:g.41204663G>C	GRCh37
NC_000023.9:g.41089607G>C	NCBI36
NG_012830.1:g.17013G>C
NG_012830.2:g.17013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1309G>C	ENSP00000496052.2:p.Ala437Pro
ENST00000399959.7:c.1174G>C	ENSP00000382840.3:p.Ala392Pro
ENST00000441189.4:c.1078G>C	ENSP00000414281.3:p.Ala360Pro
ENST00000457138.7:c.1129G>C	ENSP00000392494.2:p.Ala377Pro
ENST00000629496.3:c.1177G>C	ENSP00000487224.1:p.Ala393Pro
ENST00000642161.1:n.3376G>C
ENST00000642322.1:c.619G>C	ENSP00000496052.1:p.Ala207Pro
ENST00000642424.1:c.619G>C	ENSP00000496356.1:p.Ala207Pro
ENST00000642589.1:n.4499G>C
ENST00000642597.1:n.1351G>C
ENST00000642687.1:n.1210G>C
ENST00000642722.1:n.2010G>C
ENST00000642763.1:n.2068G>C
ENST00000642793.1:c.*626G>C	ENSP00000493976.1:n.*626G>C
ENST00000642801.1:n.826G>C
ENST00000643820.1:n.453G>C
ENST00000643963.1:c.*459G>C	ENSP00000495264.1:n.*459G>C
ENST00000644073.1:c.1135G>C	ENSP00000493475.1:p.Ala379Pro
ENST00000644074.1:c.1174G>C	ENSP00000496663.1:p.Ala392Pro
ENST00000644109.1:c.1339G>C	ENSP00000494952.1:p.Ala447Pro
ENST00000644307.1:n.1347G>C
ENST00000644513.1:c.1177G>C	ENSP00000493819.1:p.Ala393Pro
ENST00000644677.1:c.1060G>C	ENSP00000496524.1:p.Ala354Pro
ENST00000644876.2:c.1177G>C MANE Select	ENSP00000494040.1:p.Ala393Pro
ENST00000644958.1:n.2838G>C
ENST00000645080.1:c.*2399G>C	ENSP00000494767.1:n.*2399G>C
ENST00000645120.1:n.2672G>C
ENST00000645338.1:n.1347G>C
ENST00000645380.1:n.2641G>C
ENST00000645561.1:n.2353G>C
ENST00000645574.1:n.4041G>C
ENST00000645589.1:c.1177G>C	ENSP00000494588.1:p.Ala393Pro
ENST00000646093.1:n.361G>C
ENST00000646107.1:c.1060G>C	ENSP00000494518.1:p.Ala354Pro
ENST00000646122.1:c.1177G>C	ENSP00000496222.1:p.Ala393Pro
ENST00000646196.1:n.2146G>C
ENST00000646223.1:c.*1170G>C	ENSP00000496043.1:n.*1170G>C
ENST00000646319.1:c.1177G>C	ENSP00000495377.1:p.Ala393Pro
ENST00000646390.1:n.3465G>C
ENST00000646627.1:c.619G>C	ENSP00000493795.1:p.Ala207Pro
ENST00000646679.1:c.619G>C	ENSP00000494887.1:p.Ala207Pro
ENST00000646822.1:n.2239G>C
ENST00000646940.1:n.1351G>C
ENST00000647286.1:n.1275G>C
ENST00000399959.6:c.1177G>C	ENSP00000382840.2:p.Ala393Pro
ENST00000441189.3:c.341-2230G>C	ENSP00000414281.2:n.341-2230G>C
ENST00000457138.6:c.1129G>C	ENSP00000392494.2:p.Ala377Pro
ENST00000478993.5:c.1177G>C	ENSP00000478443.1:p.Ala393Pro
ENST00000542215.5:n.1225G>C
ENST00000625837.2:c.1177G>C	ENSP00000486306.1:p.Ala393Pro
ENST00000626301.2:c.1177G>C	ENSP00000486443.1:p.Ala393Pro
ENST00000629496.2:c.1177G>C	ENSP00000487224.1:p.Ala393Pro
ENST00000629785.2:c.1177G>C	ENSP00000486516.1:p.Ala393Pro
ENST00000630255.2:c.1177G>C	ENSP00000486720.1:p.Ala393Pro
ENST00000630370.2:c.1177G>C	ENSP00000487062.1:p.Ala393Pro
ENST00000630858.2:c.1177G>C	ENSP00000486514.1:p.Ala393Pro
NM_001193416.2:c.1177G>C	NP_001180345.1:p.Ala393Pro
NM_001193417.2:c.1129G>C	NP_001180346.1:p.Ala377Pro
NM_001356.4:c.1177G>C	NP_001347.3:p.Ala393Pro
NR_126093.1:n.2122G>C
XM_011543892.1:c.1177G>C	XP_011542194.1:p.Ala393Pro
NM_001363819.1:c.619G>C	NP_001350748.1:p.Ala207Pro
XM_011543892.2:c.1177G>C	XP_011542194.1:p.Ala393Pro
XM_017029313.1:c.619G>C	XP_016884802.1:p.Ala207Pro
NM_001193416.3:c.1177G>C	NP_001180345.1:p.Ala393Pro
NM_001193417.3:c.1129G>C	NP_001180346.1:p.Ala377Pro
NM_001356.5:c.1177G>C MANE Select	NP_001347.3:p.Ala393Pro