Canonical Allele Identifier: CA412771476

Gene: DDX3X

Linked Data

• gnomAD v4: X-41345290-T-C
• MyVariant Identifiers: chrX:g.41204543T>C (hg19) ; chrX:g.41345290T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345290T>C , CM000685.2:g.41345290T>C	GRCh38
NC_000023.10:g.41204543T>C , CM000685.1:g.41204543T>C	GRCh37
NC_000023.9:g.41089487T>C	NCBI36
NG_012830.1:g.16893T>C
NG_012830.2:g.16893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1268T>C	ENSP00000496052.2:p.Met423Thr
ENST00000399959.7:c.1133T>C	ENSP00000382840.3:p.Met378Thr
ENST00000441189.4:c.1037T>C	ENSP00000414281.3:p.Met346Thr
ENST00000457138.7:c.1088T>C	ENSP00000392494.2:p.Met363Thr
ENST00000629496.3:c.1136T>C	ENSP00000487224.1:p.Met379Thr
ENST00000642161.1:n.3335T>C
ENST00000642322.1:c.578T>C	ENSP00000496052.1:p.Met193Thr
ENST00000642424.1:c.578T>C	ENSP00000496356.1:p.Met193Thr
ENST00000642589.1:n.4458T>C
ENST00000642597.1:n.1310T>C
ENST00000642687.1:n.1169T>C
ENST00000642722.1:n.1969T>C
ENST00000642763.1:n.2027T>C
ENST00000642793.1:c.*585T>C	ENSP00000493976.1:n.*585T>C
ENST00000642801.1:n.785T>C
ENST00000643820.1:n.412T>C
ENST00000643963.1:c.*418T>C	ENSP00000495264.1:n.*418T>C
ENST00000644073.1:c.1094T>C	ENSP00000493475.1:p.Met365Thr
ENST00000644074.1:c.1133T>C	ENSP00000496663.1:p.Met378Thr
ENST00000644109.1:c.1298T>C	ENSP00000494952.1:p.Met433Thr
ENST00000644307.1:n.1227T>C
ENST00000644513.1:c.1136T>C	ENSP00000493819.1:p.Met379Thr
ENST00000644677.1:c.1019T>C	ENSP00000496524.1:p.Met340Thr
ENST00000644876.2:c.1136T>C MANE Select	ENSP00000494040.1:p.Met379Thr
ENST00000644958.1:n.2797T>C
ENST00000645080.1:c.*2358T>C	ENSP00000494767.1:n.*2358T>C
ENST00000645120.1:n.2631T>C
ENST00000645338.1:n.1227T>C
ENST00000645380.1:n.2521T>C
ENST00000645561.1:n.2312T>C
ENST00000645574.1:n.4000T>C
ENST00000645589.1:c.1136T>C	ENSP00000494588.1:p.Met379Thr
ENST00000646093.1:n.320T>C
ENST00000646107.1:c.1019T>C	ENSP00000494518.1:p.Met340Thr
ENST00000646122.1:c.1136T>C	ENSP00000496222.1:p.Met379Thr
ENST00000646196.1:n.2105T>C
ENST00000646223.1:c.*1129T>C	ENSP00000496043.1:n.*1129T>C
ENST00000646319.1:c.1136T>C	ENSP00000495377.1:p.Met379Thr
ENST00000646390.1:n.3424T>C
ENST00000646627.1:c.578T>C	ENSP00000493795.1:p.Met193Thr
ENST00000646679.1:c.578T>C	ENSP00000494887.1:p.Met193Thr
ENST00000646822.1:n.2198T>C
ENST00000646940.1:n.1310T>C
ENST00000647286.1:n.1234T>C
ENST00000399959.6:c.1136T>C	ENSP00000382840.2:p.Met379Thr
ENST00000441189.3:c.341-2350T>C	ENSP00000414281.2:n.341-2350T>C
ENST00000457138.6:c.1088T>C	ENSP00000392494.2:p.Met363Thr
ENST00000478993.5:c.1136T>C	ENSP00000478443.1:p.Met379Thr
ENST00000542215.5:n.1184T>C
ENST00000625837.2:c.1136T>C	ENSP00000486306.1:p.Met379Thr
ENST00000626301.2:c.1136T>C	ENSP00000486443.1:p.Met379Thr
ENST00000629496.2:c.1136T>C	ENSP00000487224.1:p.Met379Thr
ENST00000629785.2:c.1136T>C	ENSP00000486516.1:p.Met379Thr
ENST00000630255.2:c.1136T>C	ENSP00000486720.1:p.Met379Thr
ENST00000630370.2:c.1136T>C	ENSP00000487062.1:p.Met379Thr
ENST00000630858.2:c.1136T>C	ENSP00000486514.1:p.Met379Thr
NM_001193416.2:c.1136T>C	NP_001180345.1:p.Met379Thr
NM_001193417.2:c.1088T>C	NP_001180346.1:p.Met363Thr
NM_001356.4:c.1136T>C	NP_001347.3:p.Met379Thr
NR_126093.1:n.2081T>C
XM_011543892.1:c.1136T>C	XP_011542194.1:p.Met379Thr
NM_001363819.1:c.578T>C	NP_001350748.1:p.Met193Thr
XM_011543892.2:c.1136T>C	XP_011542194.1:p.Met379Thr
XM_017029313.1:c.578T>C	XP_016884802.1:p.Met193Thr
NM_001193416.3:c.1136T>C	NP_001180345.1:p.Met379Thr
NM_001193417.3:c.1088T>C	NP_001180346.1:p.Met363Thr
NM_001356.5:c.1136T>C MANE Select	NP_001347.3:p.Met379Thr