Canonical Allele Identifier: CA412775841

Gene: DDX3X

Linked Data

• gnomAD v4: X-41346393-A-G
• MyVariant Identifiers: chrX:g.41205646A>G (hg19) ; chrX:g.41346393A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346393A>G , CM000685.2:g.41346393A>G	GRCh38
NC_000023.10:g.41205646A>G , CM000685.1:g.41205646A>G	GRCh37
NC_000023.9:g.41090590A>G	NCBI36
NG_012830.1:g.17996A>G
NG_012830.2:g.17996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1612A>G	ENSP00000496052.2:p.Ile538Val
ENST00000399959.7:c.1477A>G	ENSP00000382840.3:p.Ile493Val
ENST00000441189.4:c.1381A>G	ENSP00000414281.3:p.Ile461Val
ENST00000457138.7:c.1432A>G	ENSP00000392494.2:p.Ile478Val
ENST00000611968.2:c.74A>G
ENST00000616050.3:c.228A>G
ENST00000629496.3:c.1480A>G	ENSP00000487224.1:p.Ile494Val
ENST00000642161.1:n.3679A>G
ENST00000642322.1:c.922A>G	ENSP00000496052.1:p.Ile308Val
ENST00000642424.1:c.922A>G	ENSP00000496356.1:p.Ile308Val
ENST00000642589.1:n.4802A>G
ENST00000642597.1:n.1654A>G
ENST00000642687.1:n.1513A>G
ENST00000642722.1:n.2313A>G
ENST00000642763.1:n.2371A>G
ENST00000642793.1:c.*929A>G	ENSP00000493976.1:n.*929A>G
ENST00000642801.1:n.1129A>G
ENST00000643820.1:n.756A>G
ENST00000643963.1:c.*762A>G	ENSP00000495264.1:n.*762A>G
ENST00000644073.1:c.1438A>G	ENSP00000493475.1:p.Ile480Val
ENST00000644074.1:c.1477A>G	ENSP00000496663.1:p.Ile493Val
ENST00000644109.1:c.1642A>G	ENSP00000494952.1:p.Ile548Val
ENST00000644307.1:n.1650A>G
ENST00000644513.1:c.1480A>G	ENSP00000493819.1:p.Ile494Val
ENST00000644677.1:c.1363A>G	ENSP00000496524.1:p.Ile455Val
ENST00000644876.2:c.1480A>G MANE Select	ENSP00000494040.1:p.Ile494Val
ENST00000644958.1:n.3141A>G
ENST00000645080.1:c.*2702A>G	ENSP00000494767.1:n.*2702A>G
ENST00000645120.1:n.2975A>G
ENST00000645338.1:n.1650A>G
ENST00000645380.1:n.2944A>G
ENST00000645561.1:n.2656A>G
ENST00000645574.1:n.4344A>G
ENST00000645589.1:c.1480A>G	ENSP00000494588.1:p.Ile494Val
ENST00000646107.1:c.1363A>G	ENSP00000494518.1:p.Ile455Val
ENST00000646122.1:c.1480A>G	ENSP00000496222.1:p.Ile494Val
ENST00000646196.1:n.2449A>G
ENST00000646223.1:c.*1473A>G	ENSP00000496043.1:n.*1473A>G
ENST00000646319.1:c.1480A>G	ENSP00000495377.1:p.Ile494Val
ENST00000646390.1:n.3768A>G
ENST00000646627.1:c.922A>G	ENSP00000493795.1:p.Ile308Val
ENST00000646679.1:c.922A>G	ENSP00000494887.1:p.Ile308Val
ENST00000646822.1:n.2542A>G
ENST00000646940.1:n.1654A>G
ENST00000647286.1:n.1578A>G
ENST00000647477.1:n.219A>G
ENST00000399959.6:c.1480A>G	ENSP00000382840.2:p.Ile494Val
ENST00000441189.3:c.341-1247A>G	ENSP00000414281.2:n.341-1247A>G
ENST00000457138.6:c.1432A>G	ENSP00000392494.2:p.Ile478Val
ENST00000478993.5:c.1480A>G	ENSP00000478443.1:p.Ile494Val
ENST00000542215.5:n.1528A>G
ENST00000616050.2:c.33A>G
ENST00000625837.2:c.1480A>G	ENSP00000486306.1:p.Ile494Val
ENST00000626301.2:c.1480A>G	ENSP00000486443.1:p.Ile494Val
ENST00000629496.2:c.1480A>G	ENSP00000487224.1:p.Ile494Val
ENST00000629785.2:c.1480A>G	ENSP00000486516.1:p.Ile494Val
ENST00000630255.2:c.1480A>G	ENSP00000486720.1:p.Ile494Val
ENST00000630370.2:c.1480A>G	ENSP00000487062.1:p.Ile494Val
ENST00000630858.2:c.1480A>G	ENSP00000486514.1:p.Ile494Val
NM_001193416.2:c.1480A>G	NP_001180345.1:p.Ile494Val
NM_001193417.2:c.1432A>G	NP_001180346.1:p.Ile478Val
NM_001356.4:c.1480A>G	NP_001347.3:p.Ile494Val
NR_126093.1:n.2425A>G
XM_011543892.1:c.1480A>G	XP_011542194.1:p.Ile494Val
NM_001363819.1:c.922A>G	NP_001350748.1:p.Ile308Val
XM_011543892.2:c.1480A>G	XP_011542194.1:p.Ile494Val
XM_017029313.1:c.922A>G	XP_016884802.1:p.Ile308Val
NM_001193416.3:c.1480A>G	NP_001180345.1:p.Ile494Val
NM_001193417.3:c.1432A>G	NP_001180346.1:p.Ile478Val
NM_001356.5:c.1480A>G MANE Select	NP_001347.3:p.Ile494Val