Canonical Allele Identifier: CA515972369

Gene: DDX3X

Linked Data

• gnomAD v4: X-41346246-T-C
• MyVariant Identifiers: chrX:g.41205499T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346246T>C , CM000685.2:g.41346246T>C	GRCh38
NC_000023.10:g.41205499T>C , CM000685.1:g.41205499T>C	GRCh37
NC_000023.9:g.41090443T>C	NCBI36
NG_012830.1:g.17849T>C
NG_012830.2:g.17849T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1465T>C	ENSP00000496052.2:p.Leu489=
ENST00000399959.7:c.1330T>C	ENSP00000382840.3:p.Leu444=
ENST00000441189.4:c.1234T>C	ENSP00000414281.3:p.Leu412=
ENST00000457138.7:c.1285T>C	ENSP00000392494.2:p.Leu429=
ENST00000616050.3:c.81T>C
ENST00000629496.3:c.1333T>C	ENSP00000487224.1:p.Leu445=
ENST00000642161.1:n.3532T>C
ENST00000642322.1:c.775T>C	ENSP00000496052.1:p.Leu259=
ENST00000642424.1:c.775T>C	ENSP00000496356.1:p.Leu259=
ENST00000642589.1:n.4655T>C
ENST00000642597.1:n.1507T>C
ENST00000642687.1:n.1366T>C
ENST00000642722.1:n.2166T>C
ENST00000642763.1:n.2224T>C
ENST00000642793.1:c.*782T>C	ENSP00000493976.1:n.*782T>C
ENST00000642801.1:n.982T>C
ENST00000643820.1:n.609T>C
ENST00000643963.1:c.*615T>C	ENSP00000495264.1:n.*615T>C
ENST00000644073.1:c.1291T>C	ENSP00000493475.1:p.Leu431=
ENST00000644074.1:c.1330T>C	ENSP00000496663.1:p.Leu444=
ENST00000644109.1:c.1495T>C	ENSP00000494952.1:p.Leu499=
ENST00000644307.1:n.1503T>C
ENST00000644513.1:c.1333T>C	ENSP00000493819.1:p.Leu445=
ENST00000644677.1:c.1216T>C	ENSP00000496524.1:p.Leu406=
ENST00000644876.2:c.1333T>C MANE Select	ENSP00000494040.1:p.Leu445=
ENST00000644958.1:n.2994T>C
ENST00000645080.1:c.*2555T>C	ENSP00000494767.1:n.*2555T>C
ENST00000645120.1:n.2828T>C
ENST00000645338.1:n.1503T>C
ENST00000645380.1:n.2797T>C
ENST00000645561.1:n.2509T>C
ENST00000645574.1:n.4197T>C
ENST00000645589.1:c.1333T>C	ENSP00000494588.1:p.Leu445=
ENST00000646093.1:n.517T>C
ENST00000646107.1:c.1216T>C	ENSP00000494518.1:p.Leu406=
ENST00000646122.1:c.1333T>C	ENSP00000496222.1:p.Leu445=
ENST00000646196.1:n.2302T>C
ENST00000646223.1:c.*1326T>C	ENSP00000496043.1:n.*1326T>C
ENST00000646319.1:c.1333T>C	ENSP00000495377.1:p.Leu445=
ENST00000646390.1:n.3621T>C
ENST00000646627.1:c.775T>C	ENSP00000493795.1:p.Leu259=
ENST00000646679.1:c.775T>C	ENSP00000494887.1:p.Leu259=
ENST00000646822.1:n.2395T>C
ENST00000646940.1:n.1507T>C
ENST00000647286.1:n.1431T>C
ENST00000647477.1:n.72T>C
ENST00000399959.6:c.1333T>C	ENSP00000382840.2:p.Leu445=
ENST00000441189.3:c.341-1394T>C	ENSP00000414281.2:n.341-1394T>C
ENST00000457138.6:c.1285T>C	ENSP00000392494.2:p.Leu429=
ENST00000478993.5:c.1333T>C	ENSP00000478443.1:p.Leu445=
ENST00000542215.5:n.1381T>C
ENST00000625837.2:c.1333T>C	ENSP00000486306.1:p.Leu445=
ENST00000626301.2:c.1333T>C	ENSP00000486443.1:p.Leu445=
ENST00000629496.2:c.1333T>C	ENSP00000487224.1:p.Leu445=
ENST00000629785.2:c.1333T>C	ENSP00000486516.1:p.Leu445=
ENST00000630255.2:c.1333T>C	ENSP00000486720.1:p.Leu445=
ENST00000630370.2:c.1333T>C	ENSP00000487062.1:p.Leu445=
ENST00000630858.2:c.1333T>C	ENSP00000486514.1:p.Leu445=
NM_001193416.2:c.1333T>C	NP_001180345.1:p.Leu445=
NM_001193417.2:c.1285T>C	NP_001180346.1:p.Leu429=
NM_001356.4:c.1333T>C	NP_001347.3:p.Leu445=
NR_126093.1:n.2278T>C
XM_011543892.1:c.1333T>C	XP_011542194.1:p.Leu445=
NM_001363819.1:c.775T>C	NP_001350748.1:p.Leu259=
XM_011543892.2:c.1333T>C	XP_011542194.1:p.Leu445=
XM_017029313.1:c.775T>C	XP_016884802.1:p.Leu259=
NM_001193416.3:c.1333T>C	NP_001180345.1:p.Leu445=
NM_001193417.3:c.1285T>C	NP_001180346.1:p.Leu429=
NM_001356.5:c.1333T>C MANE Select	NP_001347.3:p.Leu445=