Canonical Allele Identifier: CA412777083

Gene: DDX3X

Linked Data

• gnomAD v4: X-41346624-T-C
• MyVariant Identifiers: chrX:g.41205877T>C (hg19) ; chrX:g.41346624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346624T>C , CM000685.2:g.41346624T>C	GRCh38
NC_000023.10:g.41205877T>C , CM000685.1:g.41205877T>C	GRCh37
NC_000023.9:g.41090821T>C	NCBI36
NG_012830.1:g.18227T>C
NG_012830.2:g.18227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1747+2T>C	ENSP00000496052.2:n.1747+2T>C
ENST00000399959.7:c.1612+2T>C	ENSP00000382840.3:n.1612+2T>C
ENST00000441189.4:c.1516+2T>C	ENSP00000414281.3:n.1516+2T>C
ENST00000457138.7:c.1567+2T>C	ENSP00000392494.2:n.1567+2T>C
ENST00000611968.2:c.209+2T>C
ENST00000616050.3:c.363+2T>C
ENST00000629496.3:c.1615+2T>C	ENSP00000487224.1:n.1615+2T>C
ENST00000642161.1:n.3814+2T>C
ENST00000642322.1:c.1057+2T>C	ENSP00000496052.1:n.1057+2T>C
ENST00000642424.1:c.1057+2T>C	ENSP00000496356.1:n.1057+2T>C
ENST00000642589.1:n.4937+2T>C
ENST00000642597.1:n.1789+2T>C
ENST00000642687.1:n.1648+2T>C
ENST00000642722.1:n.2448+2T>C
ENST00000642763.1:n.2506+2T>C
ENST00000642793.1:c.*1064+2T>C	ENSP00000493976.1:n.*1064+2T>C
ENST00000642801.1:n.1264+2T>C
ENST00000643820.1:n.985+2T>C
ENST00000643963.1:c.*897+2T>C	ENSP00000495264.1:n.*897+2T>C
ENST00000644073.1:c.1573+2T>C	ENSP00000493475.1:n.1573+2T>C
ENST00000644074.1:c.1612+2T>C	ENSP00000496663.1:n.1612+2T>C
ENST00000644109.1:c.1777+2T>C	ENSP00000494952.1:n.1777+2T>C
ENST00000644307.1:n.1785+2T>C
ENST00000644513.1:c.1615+2T>C	ENSP00000493819.1:n.1615+2T>C
ENST00000644677.1:c.1498+2T>C	ENSP00000496524.1:n.1498+2T>C
ENST00000644876.2:c.1615+2T>C MANE Select	ENSP00000494040.1:n.1615+2T>C
ENST00000644958.1:n.3276+2T>C
ENST00000645080.1:c.*2837+2T>C	ENSP00000494767.1:n.*2837+2T>C
ENST00000645120.1:n.3110+2T>C
ENST00000645338.1:n.1785+2T>C
ENST00000645380.1:n.3079+2T>C
ENST00000645561.1:n.2791+2T>C
ENST00000645574.1:n.4479+2T>C
ENST00000645589.1:c.*114+2T>C	ENSP00000494588.1:n.*114+2T>C
ENST00000646107.1:c.1498+2T>C	ENSP00000494518.1:n.1498+2T>C
ENST00000646122.1:c.1615+2T>C	ENSP00000496222.1:n.1615+2T>C
ENST00000646196.1:n.2584+2T>C
ENST00000646223.1:c.*1608+2T>C	ENSP00000496043.1:n.*1608+2T>C
ENST00000646319.1:c.1615+2T>C	ENSP00000495377.1:n.1615+2T>C
ENST00000646390.1:n.3903+2T>C
ENST00000646627.1:c.1057+2T>C	ENSP00000493795.1:n.1057+2T>C
ENST00000646679.1:c.1057+2T>C	ENSP00000494887.1:n.1057+2T>C
ENST00000646822.1:n.2677+2T>C
ENST00000646940.1:n.1789+2T>C
ENST00000647286.1:n.1713+2T>C
ENST00000647477.1:n.354+2T>C
ENST00000399959.6:c.1615+2T>C	ENSP00000382840.2:n.1615+2T>C
ENST00000441189.3:c.341-1016T>C	ENSP00000414281.2:n.341-1016T>C
ENST00000457138.6:c.1567+2T>C	ENSP00000392494.2:n.1567+2T>C
ENST00000478993.5:c.1615+2T>C	ENSP00000478443.1:n.1615+2T>C
ENST00000611968.1:c.57+2T>C
ENST00000616050.2:c.168+2T>C
ENST00000625837.2:c.1615+2T>C	ENSP00000486306.1:n.1615+2T>C
ENST00000626301.2:c.1615+2T>C	ENSP00000486443.1:n.1615+2T>C
ENST00000629496.2:c.1615+2T>C	ENSP00000487224.1:n.1615+2T>C
ENST00000629785.2:c.1615+2T>C	ENSP00000486516.1:n.1615+2T>C
ENST00000630255.2:c.1615+2T>C	ENSP00000486720.1:n.1615+2T>C
ENST00000630370.2:c.1615+2T>C	ENSP00000487062.1:n.1615+2T>C
ENST00000630858.2:c.1615+2T>C	ENSP00000486514.1:n.1615+2T>C
NM_001193416.2:c.1615+2T>C	NP_001180345.1:n.1615+2T>C
NM_001193417.2:c.1567+2T>C	NP_001180346.1:n.1567+2T>C
NM_001356.4:c.1615+2T>C	NP_001347.3:n.1615+2T>C
NR_126093.1:n.2560+2T>C
XM_011543892.1:c.1615+2T>C	XP_011542194.1:n.1615+2T>C
NM_001363819.1:c.1057+2T>C	NP_001350748.1:n.1057+2T>C
XM_011543892.2:c.1615+2T>C	XP_011542194.1:n.1615+2T>C
XM_017029313.1:c.1057+2T>C	XP_016884802.1:n.1057+2T>C
NM_001193416.3:c.1615+2T>C	NP_001180345.1:n.1615+2T>C
NM_001193417.3:c.1567+2T>C	NP_001180346.1:n.1567+2T>C
NM_001356.5:c.1615+2T>C MANE Select	NP_001347.3:n.1615+2T>C