Canonical Allele Identifier: CA16043317
Gene: DDX3X HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373151
ClinVar RCV Id: RCV000413345
dbSNP Id: rs1057518255

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346397T>C , CM000685.2:g.41346397T>C GRCh38
NC_000023.10:g.41205650T>C , CM000685.1:g.41205650T>C GRCh37
NC_000023.9:g.41090594T>C NCBI36
NG_012830.1:g.18000T>C
NG_012830.2:g.18000T>C

Transcript Alleles

HGVS Amino-acid change
NM_001193416.2:c.1484T>C VV NP_001180345.1:p.Leu495Ser
NM_001193417.2:c.1436T>C VV NP_001180346.1:p.Leu479Ser
NM_001356.4:c.1484T>C VV NP_001347.3:p.Leu495Ser
NR_126093.1:n.2429T>C
XM_011543892.1:c.1484T>C XP_011542194.1:p.Leu495Ser
NM_001363819.1:c.926T>C VV NP_001350748.1:p.Leu309Ser
XM_011543892.2:c.1484T>C
XM_017029313.1:c.926T>C XP_016884802.1:p.Leu309Ser
ENST00000399959.6:c.1484T>C ENSP00000382840.2:p.Leu495Ser
ENST00000441189.3:c.341-1243T>C ENSP00000414281.2:p.=
ENST00000457138.6:c.1436T>C ENSP00000392494.2:p.Leu479Ser
ENST00000478993.5:c.1484T>C ENSP00000478443.1:p.Leu495Ser
ENST00000542215.5:n.1532T>C
ENST00000616050.2:n.37T>C
ENST00000625837.2:c.1484T>C ENSP00000486306.1:p.Leu495Ser
ENST00000626301.2:c.1484T>C ENSP00000486443.1:p.Leu495Ser
ENST00000629496.2:c.1484T>C ENSP00000487224.1:p.Leu495Ser
ENST00000629785.2:c.1484T>C ENSP00000486516.1:p.Leu495Ser
ENST00000630255.2:c.1484T>C ENSP00000486720.1:p.Leu495Ser
ENST00000630370.2:c.1484T>C ENSP00000487062.1:p.Leu495Ser
ENST00000630858.2:c.1484T>C ENSP00000486514.1:p.Leu495Ser