Canonical Allele Identifier: CA412770587

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2863780
• ClinVar RCV Id: RCV003702454
• COSMIC: COSM488373
• MyVariant Identifiers: chrX:g.41203496C>T (hg19) ; chrX:g.41344243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344243C>T , CM000685.2:g.41344243C>T	GRCh38
NC_000023.10:g.41203496C>T , CM000685.1:g.41203496C>T	GRCh37
NC_000023.9:g.41088440C>T	NCBI36
NG_012830.1:g.15846C>T
NG_012830.2:g.15846C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1001C>T	ENSP00000496052.2:p.Ser334Leu
ENST00000399959.7:c.866C>T	ENSP00000382840.3:p.Ser289Leu
ENST00000441189.4:c.770C>T	ENSP00000414281.3:p.Ser257Leu
ENST00000457138.7:c.821C>T	ENSP00000392494.2:p.Ser274Leu
ENST00000629496.3:c.869C>T	ENSP00000487224.1:p.Ser290Leu
ENST00000631641.2:n.912C>T
ENST00000642161.1:n.3068C>T
ENST00000642322.1:c.311C>T	ENSP00000496052.1:p.Ser104Leu
ENST00000642424.1:c.311C>T	ENSP00000496356.1:p.Ser104Leu
ENST00000642589.1:n.4191C>T
ENST00000642597.1:n.1043C>T
ENST00000642687.1:n.902C>T
ENST00000642722.1:n.1702C>T
ENST00000642763.1:n.1760C>T
ENST00000642793.1:c.*318C>T	ENSP00000493976.1:n.*318C>T
ENST00000642801.1:n.518C>T
ENST00000643820.1:n.145C>T
ENST00000643963.1:c.*151C>T	ENSP00000495264.1:n.*151C>T
ENST00000644073.1:c.827C>T	ENSP00000493475.1:p.Ser276Leu
ENST00000644074.1:c.866C>T	ENSP00000496663.1:p.Ser289Leu
ENST00000644109.1:c.866C>T	ENSP00000494952.1:p.Ser289Leu
ENST00000644307.1:n.960C>T
ENST00000644513.1:c.869C>T	ENSP00000493819.1:p.Ser290Leu
ENST00000644677.1:c.752C>T	ENSP00000496524.1:p.Ser251Leu
ENST00000644876.2:c.869C>T MANE Select	ENSP00000494040.1:p.Ser290Leu
ENST00000644958.1:n.2530C>T
ENST00000645080.1:c.*2091C>T	ENSP00000494767.1:n.*2091C>T
ENST00000645120.1:n.2364C>T
ENST00000645338.1:n.960C>T
ENST00000645380.1:n.2254C>T
ENST00000645561.1:n.2045C>T
ENST00000645574.1:n.3733C>T
ENST00000645589.1:c.869C>T	ENSP00000494588.1:p.Ser290Leu
ENST00000646093.1:n.53C>T
ENST00000646107.1:c.752C>T	ENSP00000494518.1:p.Ser251Leu
ENST00000646122.1:c.869C>T	ENSP00000496222.1:p.Ser290Leu
ENST00000646196.1:n.1838C>T
ENST00000646223.1:c.*862C>T	ENSP00000496043.1:n.*862C>T
ENST00000646319.1:c.869C>T	ENSP00000495377.1:p.Ser290Leu
ENST00000646390.1:n.3157C>T
ENST00000646627.1:c.311C>T	ENSP00000493795.1:p.Ser104Leu
ENST00000646679.1:c.311C>T	ENSP00000494887.1:p.Ser104Leu
ENST00000646822.1:n.1931C>T
ENST00000646940.1:n.1043C>T
ENST00000647286.1:n.967C>T
ENST00000399959.6:c.869C>T	ENSP00000382840.2:p.Ser290Leu
ENST00000441189.3:c.340+1693C>T	ENSP00000414281.2:n.340+1693C>T
ENST00000457138.6:c.821C>T	ENSP00000392494.2:p.Ser274Leu
ENST00000478993.5:c.869C>T	ENSP00000478443.1:p.Ser290Leu
ENST00000542215.5:n.917C>T
ENST00000625837.2:c.869C>T	ENSP00000486306.1:p.Ser290Leu
ENST00000626301.2:c.869C>T	ENSP00000486443.1:p.Ser290Leu
ENST00000629496.2:c.869C>T	ENSP00000487224.1:p.Ser290Leu
ENST00000629785.2:c.869C>T	ENSP00000486516.1:p.Ser290Leu
ENST00000630255.2:c.869C>T	ENSP00000486720.1:p.Ser290Leu
ENST00000630370.2:c.869C>T	ENSP00000487062.1:p.Ser290Leu
ENST00000630858.2:c.869C>T	ENSP00000486514.1:p.Ser290Leu
NM_001193416.2:c.869C>T	NP_001180345.1:p.Ser290Leu
NM_001193417.2:c.821C>T	NP_001180346.1:p.Ser274Leu
NM_001356.4:c.869C>T	NP_001347.3:p.Ser290Leu
NR_126093.1:n.1814C>T
XM_011543892.1:c.869C>T	XP_011542194.1:p.Ser290Leu
NM_001363819.1:c.311C>T	NP_001350748.1:p.Ser104Leu
XM_011543892.2:c.869C>T	XP_011542194.1:p.Ser290Leu
XM_017029313.1:c.311C>T	XP_016884802.1:p.Ser104Leu
NM_001193416.3:c.869C>T	NP_001180345.1:p.Ser290Leu
NM_001193417.3:c.821C>T	NP_001180346.1:p.Ser274Leu
NM_001356.5:c.869C>T MANE Select	NP_001347.3:p.Ser290Leu