Canonical Allele Identifier: CA412771425

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2728812
• ClinVar RCV Id: RCV003559626
• MyVariant Identifiers: chrX:g.41204519C>T (hg19) ; chrX:g.41345266C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345266C>T , CM000685.2:g.41345266C>T	GRCh38
NC_000023.10:g.41204519C>T , CM000685.1:g.41204519C>T	GRCh37
NC_000023.9:g.41089463C>T	NCBI36
NG_012830.1:g.16869C>T
NG_012830.2:g.16869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1244C>T	ENSP00000496052.2:p.Pro415Leu
ENST00000399959.7:c.1109C>T	ENSP00000382840.3:p.Pro370Leu
ENST00000441189.4:c.1013C>T	ENSP00000414281.3:p.Pro338Leu
ENST00000457138.7:c.1064C>T	ENSP00000392494.2:p.Pro355Leu
ENST00000629496.3:c.1112C>T	ENSP00000487224.1:p.Pro371Leu
ENST00000642161.1:n.3311C>T
ENST00000642322.1:c.554C>T	ENSP00000496052.1:p.Pro185Leu
ENST00000642424.1:c.554C>T	ENSP00000496356.1:p.Pro185Leu
ENST00000642589.1:n.4434C>T
ENST00000642597.1:n.1286C>T
ENST00000642687.1:n.1145C>T
ENST00000642722.1:n.1945C>T
ENST00000642763.1:n.2003C>T
ENST00000642793.1:c.*561C>T	ENSP00000493976.1:n.*561C>T
ENST00000642801.1:n.761C>T
ENST00000643820.1:n.388C>T
ENST00000643963.1:c.*394C>T	ENSP00000495264.1:n.*394C>T
ENST00000644073.1:c.1070C>T	ENSP00000493475.1:p.Pro357Leu
ENST00000644074.1:c.1109C>T	ENSP00000496663.1:p.Pro370Leu
ENST00000644109.1:c.1274C>T	ENSP00000494952.1:p.Pro425Leu
ENST00000644307.1:n.1203C>T
ENST00000644513.1:c.1112C>T	ENSP00000493819.1:p.Pro371Leu
ENST00000644677.1:c.995C>T	ENSP00000496524.1:p.Pro332Leu
ENST00000644876.2:c.1112C>T MANE Select	ENSP00000494040.1:p.Pro371Leu
ENST00000644958.1:n.2773C>T
ENST00000645080.1:c.*2334C>T	ENSP00000494767.1:n.*2334C>T
ENST00000645120.1:n.2607C>T
ENST00000645338.1:n.1203C>T
ENST00000645380.1:n.2497C>T
ENST00000645561.1:n.2288C>T
ENST00000645574.1:n.3976C>T
ENST00000645589.1:c.1112C>T	ENSP00000494588.1:p.Pro371Leu
ENST00000646093.1:n.296C>T
ENST00000646107.1:c.995C>T	ENSP00000494518.1:p.Pro332Leu
ENST00000646122.1:c.1112C>T	ENSP00000496222.1:p.Pro371Leu
ENST00000646196.1:n.2081C>T
ENST00000646223.1:c.*1105C>T	ENSP00000496043.1:n.*1105C>T
ENST00000646319.1:c.1112C>T	ENSP00000495377.1:p.Pro371Leu
ENST00000646390.1:n.3400C>T
ENST00000646627.1:c.554C>T	ENSP00000493795.1:p.Pro185Leu
ENST00000646679.1:c.554C>T	ENSP00000494887.1:p.Pro185Leu
ENST00000646822.1:n.2174C>T
ENST00000646940.1:n.1286C>T
ENST00000647286.1:n.1210C>T
ENST00000399959.6:c.1112C>T	ENSP00000382840.2:p.Pro371Leu
ENST00000441189.3:c.341-2374C>T	ENSP00000414281.2:n.341-2374C>T
ENST00000457138.6:c.1064C>T	ENSP00000392494.2:p.Pro355Leu
ENST00000478993.5:c.1112C>T	ENSP00000478443.1:p.Pro371Leu
ENST00000542215.5:n.1160C>T
ENST00000625837.2:c.1112C>T	ENSP00000486306.1:p.Pro371Leu
ENST00000626301.2:c.1112C>T	ENSP00000486443.1:p.Pro371Leu
ENST00000629496.2:c.1112C>T	ENSP00000487224.1:p.Pro371Leu
ENST00000629785.2:c.1112C>T	ENSP00000486516.1:p.Pro371Leu
ENST00000630255.2:c.1112C>T	ENSP00000486720.1:p.Pro371Leu
ENST00000630370.2:c.1112C>T	ENSP00000487062.1:p.Pro371Leu
ENST00000630858.2:c.1112C>T	ENSP00000486514.1:p.Pro371Leu
NM_001193416.2:c.1112C>T	NP_001180345.1:p.Pro371Leu
NM_001193417.2:c.1064C>T	NP_001180346.1:p.Pro355Leu
NM_001356.4:c.1112C>T	NP_001347.3:p.Pro371Leu
NR_126093.1:n.2057C>T
XM_011543892.1:c.1112C>T	XP_011542194.1:p.Pro371Leu
NM_001363819.1:c.554C>T	NP_001350748.1:p.Pro185Leu
XM_011543892.2:c.1112C>T	XP_011542194.1:p.Pro371Leu
XM_017029313.1:c.554C>T	XP_016884802.1:p.Pro185Leu
NM_001193416.3:c.1112C>T	NP_001180345.1:p.Pro371Leu
NM_001193417.3:c.1064C>T	NP_001180346.1:p.Pro355Leu
NM_001356.5:c.1112C>T MANE Select	NP_001347.3:p.Pro371Leu