Canonical Allele Identifier: CA412776664

Gene: DDX3X

Linked Data

• gnomAD v4: X-41346572-T-C
• MyVariant Identifiers: chrX:g.41205825T>C (hg19) ; chrX:g.41346572T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346572T>C , CM000685.2:g.41346572T>C	GRCh38
NC_000023.10:g.41205825T>C , CM000685.1:g.41205825T>C	GRCh37
NC_000023.9:g.41090769T>C	NCBI36
NG_012830.1:g.18175T>C
NG_012830.2:g.18175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1697T>C	ENSP00000496052.2:p.Ile566Thr
ENST00000399959.7:c.1562T>C	ENSP00000382840.3:p.Ile521Thr
ENST00000441189.4:c.1466T>C	ENSP00000414281.3:p.Ile489Thr
ENST00000457138.7:c.1517T>C	ENSP00000392494.2:p.Ile506Thr
ENST00000611968.2:c.159T>C
ENST00000616050.3:c.313T>C
ENST00000629496.3:c.1565T>C	ENSP00000487224.1:p.Ile522Thr
ENST00000642161.1:n.3764T>C
ENST00000642322.1:c.1007T>C	ENSP00000496052.1:p.Ile336Thr
ENST00000642424.1:c.1007T>C	ENSP00000496356.1:p.Ile336Thr
ENST00000642589.1:n.4887T>C
ENST00000642597.1:n.1739T>C
ENST00000642687.1:n.1598T>C
ENST00000642722.1:n.2398T>C
ENST00000642763.1:n.2456T>C
ENST00000642793.1:c.*1014T>C	ENSP00000493976.1:n.*1014T>C
ENST00000642801.1:n.1214T>C
ENST00000643820.1:n.935T>C
ENST00000643963.1:c.*847T>C	ENSP00000495264.1:n.*847T>C
ENST00000644073.1:c.1523T>C	ENSP00000493475.1:p.Ile508Thr
ENST00000644074.1:c.1562T>C	ENSP00000496663.1:p.Ile521Thr
ENST00000644109.1:c.1727T>C	ENSP00000494952.1:p.Ile576Thr
ENST00000644307.1:n.1735T>C
ENST00000644513.1:c.1565T>C	ENSP00000493819.1:p.Ile522Thr
ENST00000644677.1:c.1448T>C	ENSP00000496524.1:p.Ile483Thr
ENST00000644876.2:c.1565T>C MANE Select	ENSP00000494040.1:p.Ile522Thr
ENST00000644958.1:n.3226T>C
ENST00000645080.1:c.*2787T>C	ENSP00000494767.1:n.*2787T>C
ENST00000645120.1:n.3060T>C
ENST00000645338.1:n.1735T>C
ENST00000645380.1:n.3029T>C
ENST00000645561.1:n.2741T>C
ENST00000645574.1:n.4429T>C
ENST00000645589.1:c.*64T>C	ENSP00000494588.1:n.*64T>C
ENST00000646107.1:c.1448T>C	ENSP00000494518.1:p.Ile483Thr
ENST00000646122.1:c.1565T>C	ENSP00000496222.1:p.Ile522Thr
ENST00000646196.1:n.2534T>C
ENST00000646223.1:c.*1558T>C	ENSP00000496043.1:n.*1558T>C
ENST00000646319.1:c.1565T>C	ENSP00000495377.1:p.Ile522Thr
ENST00000646390.1:n.3853T>C
ENST00000646627.1:c.1007T>C	ENSP00000493795.1:p.Ile336Thr
ENST00000646679.1:c.1007T>C	ENSP00000494887.1:p.Ile336Thr
ENST00000646822.1:n.2627T>C
ENST00000646940.1:n.1739T>C
ENST00000647286.1:n.1663T>C
ENST00000647477.1:n.304T>C
ENST00000399959.6:c.1565T>C	ENSP00000382840.2:p.Ile522Thr
ENST00000441189.3:c.341-1068T>C	ENSP00000414281.2:n.341-1068T>C
ENST00000457138.6:c.1517T>C	ENSP00000392494.2:p.Ile506Thr
ENST00000478993.5:c.1565T>C	ENSP00000478443.1:p.Ile522Thr
ENST00000611968.1:c.7T>C
ENST00000616050.2:c.118T>C
ENST00000625837.2:c.1565T>C	ENSP00000486306.1:p.Ile522Thr
ENST00000626301.2:c.1565T>C	ENSP00000486443.1:p.Ile522Thr
ENST00000629496.2:c.1565T>C	ENSP00000487224.1:p.Ile522Thr
ENST00000629785.2:c.1565T>C	ENSP00000486516.1:p.Ile522Thr
ENST00000630255.2:c.1565T>C	ENSP00000486720.1:p.Ile522Thr
ENST00000630370.2:c.1565T>C	ENSP00000487062.1:p.Ile522Thr
ENST00000630858.2:c.1565T>C	ENSP00000486514.1:p.Ile522Thr
NM_001193416.2:c.1565T>C	NP_001180345.1:p.Ile522Thr
NM_001193417.2:c.1517T>C	NP_001180346.1:p.Ile506Thr
NM_001356.4:c.1565T>C	NP_001347.3:p.Ile522Thr
NR_126093.1:n.2510T>C
XM_011543892.1:c.1565T>C	XP_011542194.1:p.Ile522Thr
NM_001363819.1:c.1007T>C	NP_001350748.1:p.Ile336Thr
XM_011543892.2:c.1565T>C	XP_011542194.1:p.Ile522Thr
XM_017029313.1:c.1007T>C	XP_016884802.1:p.Ile336Thr
NM_001193416.3:c.1565T>C	NP_001180345.1:p.Ile522Thr
NM_001193417.3:c.1517T>C	NP_001180346.1:p.Ile506Thr
NM_001356.5:c.1565T>C MANE Select	NP_001347.3:p.Ile522Thr