Canonical Allele Identifier: CA516347411

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41205775G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346522G>C , CM000685.2:g.41346522G>C	GRCh38
NC_000023.10:g.41205775G>C , CM000685.1:g.41205775G>C	GRCh37
NC_000023.9:g.41090719G>C	NCBI36
NG_012830.1:g.18125G>C
NG_012830.2:g.18125G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1647G>C	ENSP00000496052.2:p.Leu549=
ENST00000399959.7:c.1512G>C	ENSP00000382840.3:p.Leu504=
ENST00000441189.4:c.1416G>C	ENSP00000414281.3:p.Leu472=
ENST00000457138.7:c.1467G>C	ENSP00000392494.2:p.Leu489=
ENST00000611968.2:c.109G>C
ENST00000616050.3:c.263G>C
ENST00000629496.3:c.1515G>C	ENSP00000487224.1:p.Leu505=
ENST00000642161.1:n.3714G>C
ENST00000642322.1:c.957G>C	ENSP00000496052.1:p.Leu319=
ENST00000642424.1:c.957G>C	ENSP00000496356.1:p.Leu319=
ENST00000642589.1:n.4837G>C
ENST00000642597.1:n.1689G>C
ENST00000642687.1:n.1548G>C
ENST00000642722.1:n.2348G>C
ENST00000642763.1:n.2406G>C
ENST00000642793.1:c.*964G>C	ENSP00000493976.1:n.*964G>C
ENST00000642801.1:n.1164G>C
ENST00000643820.1:n.885G>C
ENST00000643963.1:c.*797G>C	ENSP00000495264.1:n.*797G>C
ENST00000644073.1:c.1473G>C	ENSP00000493475.1:p.Leu491=
ENST00000644074.1:c.1512G>C	ENSP00000496663.1:p.Leu504=
ENST00000644109.1:c.1677G>C	ENSP00000494952.1:p.Leu559=
ENST00000644307.1:n.1685G>C
ENST00000644513.1:c.1515G>C	ENSP00000493819.1:p.Leu505=
ENST00000644677.1:c.1398G>C	ENSP00000496524.1:p.Leu466=
ENST00000644876.2:c.1515G>C MANE Select	ENSP00000494040.1:p.Leu505=
ENST00000644958.1:n.3176G>C
ENST00000645080.1:c.*2737G>C	ENSP00000494767.1:n.*2737G>C
ENST00000645120.1:n.3010G>C
ENST00000645338.1:n.1685G>C
ENST00000645380.1:n.2979G>C
ENST00000645561.1:n.2691G>C
ENST00000645574.1:n.4379G>C
ENST00000645589.1:c.*14G>C	ENSP00000494588.1:n.*14G>C
ENST00000646107.1:c.1398G>C	ENSP00000494518.1:p.Leu466=
ENST00000646122.1:c.1515G>C	ENSP00000496222.1:p.Leu505=
ENST00000646196.1:n.2484G>C
ENST00000646223.1:c.*1508G>C	ENSP00000496043.1:n.*1508G>C
ENST00000646319.1:c.1515G>C	ENSP00000495377.1:p.Leu505=
ENST00000646390.1:n.3803G>C
ENST00000646627.1:c.957G>C	ENSP00000493795.1:p.Leu319=
ENST00000646679.1:c.957G>C	ENSP00000494887.1:p.Leu319=
ENST00000646822.1:n.2577G>C
ENST00000646940.1:n.1689G>C
ENST00000647286.1:n.1613G>C
ENST00000647477.1:n.254G>C
ENST00000399959.6:c.1515G>C	ENSP00000382840.2:p.Leu505=
ENST00000441189.3:c.341-1118G>C	ENSP00000414281.2:n.341-1118G>C
ENST00000457138.6:c.1467G>C	ENSP00000392494.2:p.Leu489=
ENST00000478993.5:c.1515G>C	ENSP00000478443.1:p.Leu505=
ENST00000542215.5:n.1563G>C
ENST00000616050.2:c.68G>C
ENST00000625837.2:c.1515G>C	ENSP00000486306.1:p.Leu505=
ENST00000626301.2:c.1515G>C	ENSP00000486443.1:p.Leu505=
ENST00000629496.2:c.1515G>C	ENSP00000487224.1:p.Leu505=
ENST00000629785.2:c.1515G>C	ENSP00000486516.1:p.Leu505=
ENST00000630255.2:c.1515G>C	ENSP00000486720.1:p.Leu505=
ENST00000630370.2:c.1515G>C	ENSP00000487062.1:p.Leu505=
ENST00000630858.2:c.1515G>C	ENSP00000486514.1:p.Leu505=
NM_001193416.2:c.1515G>C	NP_001180345.1:p.Leu505=
NM_001193417.2:c.1467G>C	NP_001180346.1:p.Leu489=
NM_001356.4:c.1515G>C	NP_001347.3:p.Leu505=
NR_126093.1:n.2460G>C
XM_011543892.1:c.1515G>C	XP_011542194.1:p.Leu505=
NM_001363819.1:c.957G>C	NP_001350748.1:p.Leu319=
XM_011543892.2:c.1515G>C	XP_011542194.1:p.Leu505=
XM_017029313.1:c.957G>C	XP_016884802.1:p.Leu319=
NM_001193416.3:c.1515G>C	NP_001180345.1:p.Leu505=
NM_001193417.3:c.1467G>C	NP_001180346.1:p.Leu489=
NM_001356.5:c.1515G>C MANE Select	NP_001347.3:p.Leu505=