Canonical Allele Identifier: CA236013
Gene: DDX39A HGNC NCBI

Linked Data

ClinVar Variation Id: 191100
ClinVar RCV Id: RCV000171279
dbSNP Id: rs786205516

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.14410271A>T , CM000681.2:g.14410271A>T GRCh38
NC_000019.9:g.14521083A>T , CM000681.1:g.14521083A>T GRCh37
NC_000019.8:g.14382083A>T NCBI36
NG_029055.1:g.14113T>A
NG_029253.1:g.34128A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242776.9:c.677T>A MANE Select ENSP00000242776.3:p.Phe226Tyr
ENST00000242776.8:c.677T>A ENSP00000242776.3:p.Phe226Tyr
ENST00000324340.13:c.677T>A ENSP00000322749.8:p.Phe226Tyr
ENST00000454233.6:c.677T>A ENSP00000392929.2:p.Phe226Tyr
ENST00000587730.5:n.659T>A
ENST00000588542.5:n.799T>A
ENST00000588692.5:c.677T>A ENSP00000467862.1:p.Phe226Tyr
ENST00000589318.5:n.749T>A
ENST00000589675.5:c.710T>A ENSP00000467911.1:p.Phe237Tyr
ENST00000592391.5:n.444T>A
ENST00000592927.5:c.526T>A ENSP00000485838.1:n.526T>A
ENST00000593026.1:n.647T>A
NM_005804.3:c.677T>A NP_005795.2:p.Phe226Tyr
NR_046366.2:n.795T>A
XM_006722606.2:c.62T>A XP_006722669.1:p.Phe21Tyr
XM_011527620.1:c.677T>A XP_011525922.1:p.Phe226Tyr
XM_011527621.1:c.62T>A XP_011525923.1:p.Phe21Tyr
XM_006722606.4:c.62T>A XP_006722669.1:p.Phe21Tyr
XM_011527621.3:c.62T>A XP_011525923.1:p.Phe21Tyr
XM_024451310.1:c.182T>A XP_024307078.1:p.Phe61Tyr
XM_024451311.1:c.62T>A XP_024307079.1:p.Phe21Tyr
XM_024451312.1:c.62T>A XP_024307080.1:p.Phe21Tyr
NM_005804.4:c.677T>A MANE Select NP_005795.2:p.Phe226Tyr