Canonical Allele Identifier: CA412776980

Gene: DDX3X

Linked Data

• MyVariant Identifiers: chrX:g.41205861G>C (hg19) ; chrX:g.41346608G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346608G>C , CM000685.2:g.41346608G>C	GRCh38
NC_000023.10:g.41205861G>C , CM000685.1:g.41205861G>C	GRCh37
NC_000023.9:g.41090805G>C	NCBI36
NG_012830.1:g.18211G>C
NG_012830.2:g.18211G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1733G>C	ENSP00000496052.2:p.Arg578Pro
ENST00000399959.7:c.1598G>C	ENSP00000382840.3:p.Arg533Pro
ENST00000441189.4:c.1502G>C	ENSP00000414281.3:p.Arg501Pro
ENST00000457138.7:c.1553G>C	ENSP00000392494.2:p.Arg518Pro
ENST00000611968.2:c.195G>C
ENST00000616050.3:c.349G>C
ENST00000629496.3:c.1601G>C	ENSP00000487224.1:p.Arg534Pro
ENST00000642161.1:n.3800G>C
ENST00000642322.1:c.1043G>C	ENSP00000496052.1:p.Arg348Pro
ENST00000642424.1:c.1043G>C	ENSP00000496356.1:p.Arg348Pro
ENST00000642589.1:n.4923G>C
ENST00000642597.1:n.1775G>C
ENST00000642687.1:n.1634G>C
ENST00000642722.1:n.2434G>C
ENST00000642763.1:n.2492G>C
ENST00000642793.1:c.*1050G>C	ENSP00000493976.1:n.*1050G>C
ENST00000642801.1:n.1250G>C
ENST00000643820.1:n.971G>C
ENST00000643963.1:c.*883G>C	ENSP00000495264.1:n.*883G>C
ENST00000644073.1:c.1559G>C	ENSP00000493475.1:p.Arg520Pro
ENST00000644074.1:c.1598G>C	ENSP00000496663.1:p.Arg533Pro
ENST00000644109.1:c.1763G>C	ENSP00000494952.1:p.Arg588Pro
ENST00000644307.1:n.1771G>C
ENST00000644513.1:c.1601G>C	ENSP00000493819.1:p.Arg534Pro
ENST00000644677.1:c.1484G>C	ENSP00000496524.1:p.Arg495Pro
ENST00000644876.2:c.1601G>C MANE Select	ENSP00000494040.1:p.Arg534Pro
ENST00000644958.1:n.3262G>C
ENST00000645080.1:c.*2823G>C	ENSP00000494767.1:n.*2823G>C
ENST00000645120.1:n.3096G>C
ENST00000645338.1:n.1771G>C
ENST00000645380.1:n.3065G>C
ENST00000645561.1:n.2777G>C
ENST00000645574.1:n.4465G>C
ENST00000645589.1:c.*100G>C	ENSP00000494588.1:n.*100G>C
ENST00000646107.1:c.1484G>C	ENSP00000494518.1:p.Arg495Pro
ENST00000646122.1:c.1601G>C	ENSP00000496222.1:p.Arg534Pro
ENST00000646196.1:n.2570G>C
ENST00000646223.1:c.*1594G>C	ENSP00000496043.1:n.*1594G>C
ENST00000646319.1:c.1601G>C	ENSP00000495377.1:p.Arg534Pro
ENST00000646390.1:n.3889G>C
ENST00000646627.1:c.1043G>C	ENSP00000493795.1:p.Arg348Pro
ENST00000646679.1:c.1043G>C	ENSP00000494887.1:p.Arg348Pro
ENST00000646822.1:n.2663G>C
ENST00000646940.1:n.1775G>C
ENST00000647286.1:n.1699G>C
ENST00000647477.1:n.340G>C
ENST00000399959.6:c.1601G>C	ENSP00000382840.2:p.Arg534Pro
ENST00000441189.3:c.341-1032G>C	ENSP00000414281.2:n.341-1032G>C
ENST00000457138.6:c.1553G>C	ENSP00000392494.2:p.Arg518Pro
ENST00000478993.5:c.1601G>C	ENSP00000478443.1:p.Arg534Pro
ENST00000611968.1:c.43G>C
ENST00000616050.2:c.154G>C
ENST00000625837.2:c.1601G>C	ENSP00000486306.1:p.Arg534Pro
ENST00000626301.2:c.1601G>C	ENSP00000486443.1:p.Arg534Pro
ENST00000629496.2:c.1601G>C	ENSP00000487224.1:p.Arg534Pro
ENST00000629785.2:c.1601G>C	ENSP00000486516.1:p.Arg534Pro
ENST00000630255.2:c.1601G>C	ENSP00000486720.1:p.Arg534Pro
ENST00000630370.2:c.1601G>C	ENSP00000487062.1:p.Arg534Pro
ENST00000630858.2:c.1601G>C	ENSP00000486514.1:p.Arg534Pro
NM_001193416.2:c.1601G>C	NP_001180345.1:p.Arg534Pro
NM_001193417.2:c.1553G>C	NP_001180346.1:p.Arg518Pro
NM_001356.4:c.1601G>C	NP_001347.3:p.Arg534Pro
NR_126093.1:n.2546G>C
XM_011543892.1:c.1601G>C	XP_011542194.1:p.Arg534Pro
NM_001363819.1:c.1043G>C	NP_001350748.1:p.Arg348Pro
XM_011543892.2:c.1601G>C	XP_011542194.1:p.Arg534Pro
XM_017029313.1:c.1043G>C	XP_016884802.1:p.Arg348Pro
NM_001193416.3:c.1601G>C	NP_001180345.1:p.Arg534Pro
NM_001193417.3:c.1553G>C	NP_001180346.1:p.Arg518Pro
NM_001356.5:c.1601G>C MANE Select	NP_001347.3:p.Arg534Pro