Canonical Allele Identifier: CA516347431

Gene: DDX3X

Linked Data

• gnomAD v4: X-41346558-C-T
• MyVariant Identifiers: chrX:g.41205811C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346558C>T , CM000685.2:g.41346558C>T	GRCh38
NC_000023.10:g.41205811C>T , CM000685.1:g.41205811C>T	GRCh37
NC_000023.9:g.41090755C>T	NCBI36
NG_012830.1:g.18161C>T
NG_012830.2:g.18161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1683C>T	ENSP00000496052.2:p.Asp561=
ENST00000399959.7:c.1548C>T	ENSP00000382840.3:p.Asp516=
ENST00000441189.4:c.1452C>T	ENSP00000414281.3:p.Asp484=
ENST00000457138.7:c.1503C>T	ENSP00000392494.2:p.Asp501=
ENST00000611968.2:c.145C>T
ENST00000616050.3:c.299C>T
ENST00000629496.3:c.1551C>T	ENSP00000487224.1:p.Asp517=
ENST00000642161.1:n.3750C>T
ENST00000642322.1:c.993C>T	ENSP00000496052.1:p.Asp331=
ENST00000642424.1:c.993C>T	ENSP00000496356.1:p.Asp331=
ENST00000642589.1:n.4873C>T
ENST00000642597.1:n.1725C>T
ENST00000642687.1:n.1584C>T
ENST00000642722.1:n.2384C>T
ENST00000642763.1:n.2442C>T
ENST00000642793.1:c.*1000C>T	ENSP00000493976.1:n.*1000C>T
ENST00000642801.1:n.1200C>T
ENST00000643820.1:n.921C>T
ENST00000643963.1:c.*833C>T	ENSP00000495264.1:n.*833C>T
ENST00000644073.1:c.1509C>T	ENSP00000493475.1:p.Asp503=
ENST00000644074.1:c.1548C>T	ENSP00000496663.1:p.Asp516=
ENST00000644109.1:c.1713C>T	ENSP00000494952.1:p.Asp571=
ENST00000644307.1:n.1721C>T
ENST00000644513.1:c.1551C>T	ENSP00000493819.1:p.Asp517=
ENST00000644677.1:c.1434C>T	ENSP00000496524.1:p.Asp478=
ENST00000644876.2:c.1551C>T MANE Select	ENSP00000494040.1:p.Asp517=
ENST00000644958.1:n.3212C>T
ENST00000645080.1:c.*2773C>T	ENSP00000494767.1:n.*2773C>T
ENST00000645120.1:n.3046C>T
ENST00000645338.1:n.1721C>T
ENST00000645380.1:n.3015C>T
ENST00000645561.1:n.2727C>T
ENST00000645574.1:n.4415C>T
ENST00000645589.1:c.*50C>T	ENSP00000494588.1:n.*50C>T
ENST00000646107.1:c.1434C>T	ENSP00000494518.1:p.Asp478=
ENST00000646122.1:c.1551C>T	ENSP00000496222.1:p.Asp517=
ENST00000646196.1:n.2520C>T
ENST00000646223.1:c.*1544C>T	ENSP00000496043.1:n.*1544C>T
ENST00000646319.1:c.1551C>T	ENSP00000495377.1:p.Asp517=
ENST00000646390.1:n.3839C>T
ENST00000646627.1:c.993C>T	ENSP00000493795.1:p.Asp331=
ENST00000646679.1:c.993C>T	ENSP00000494887.1:p.Asp331=
ENST00000646822.1:n.2613C>T
ENST00000646940.1:n.1725C>T
ENST00000647286.1:n.1649C>T
ENST00000647477.1:n.290C>T
ENST00000399959.6:c.1551C>T	ENSP00000382840.2:p.Asp517=
ENST00000441189.3:c.341-1082C>T	ENSP00000414281.2:n.341-1082C>T
ENST00000457138.6:c.1503C>T	ENSP00000392494.2:p.Asp501=
ENST00000478993.5:c.1551C>T	ENSP00000478443.1:p.Asp517=
ENST00000616050.2:c.104C>T
ENST00000625837.2:c.1551C>T	ENSP00000486306.1:p.Asp517=
ENST00000626301.2:c.1551C>T	ENSP00000486443.1:p.Asp517=
ENST00000629496.2:c.1551C>T	ENSP00000487224.1:p.Asp517=
ENST00000629785.2:c.1551C>T	ENSP00000486516.1:p.Asp517=
ENST00000630255.2:c.1551C>T	ENSP00000486720.1:p.Asp517=
ENST00000630370.2:c.1551C>T	ENSP00000487062.1:p.Asp517=
ENST00000630858.2:c.1551C>T	ENSP00000486514.1:p.Asp517=
NM_001193416.2:c.1551C>T	NP_001180345.1:p.Asp517=
NM_001193417.2:c.1503C>T	NP_001180346.1:p.Asp501=
NM_001356.4:c.1551C>T	NP_001347.3:p.Asp517=
NR_126093.1:n.2496C>T
XM_011543892.1:c.1551C>T	XP_011542194.1:p.Asp517=
NM_001363819.1:c.993C>T	NP_001350748.1:p.Asp331=
XM_011543892.2:c.1551C>T	XP_011542194.1:p.Asp517=
XM_017029313.1:c.993C>T	XP_016884802.1:p.Asp331=
NM_001193416.3:c.1551C>T	NP_001180345.1:p.Asp517=
NM_001193417.3:c.1503C>T	NP_001180346.1:p.Asp501=
NM_001356.5:c.1551C>T MANE Select	NP_001347.3:p.Asp517=