Canonical Allele Identifier: CA404426574
Gene: DDX39A HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.14408950C>T
GRCh37 chr19:g.14519762C>T
Revel Score:
ENST00000451994 0.102
ENST00000242776 (MANE Select) 0.102
gnomAD v2:
19:14519762 C / T
gnomAD v3:
19:14408950 C / T
gnomAD v4:
chr19-14408950-C-T
Joint Max Group AF 0.00001465 (NFE)
Exomes Max Group AF 0.00001555 (NFE)
ClinVar RCV:
RCV004144354
ClinVar Variation:
2292532
dbSNP:
1217352698
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.14408950C>T , CM000681.2:g.14408950C>T GRCh38
NC_000019.9:g.14519762C>T , CM000681.1:g.14519762C>T GRCh37
NC_000019.8:g.14380762C>T NCBI36
NG_029055.1:g.15434G>A
NG_029253.1:g.32807C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242776.9:c.1270G>A MANE Select ENSP00000242776.3:p.Glu424Lys
ENST00000242776.8:c.1270G>A ENSP00000242776.3:p.Glu424Lys
ENST00000324340.13:c.*191G>A ENSP00000322749.8:n.*191G>A
ENST00000587730.5:n.1682G>A
ENST00000588692.5:c.1378G>A ENSP00000467862.1:n.1378G>A
ENST00000589318.5:n.1772G>A
NM_005804.3:c.1270G>A NP_005795.2:p.Glu424Lys
NR_046366.2:n.1278G>A
XM_006722606.2:c.655G>A XP_006722669.1:p.Glu219Lys
XM_011527620.1:c.1270G>A XP_011525922.1:p.Glu424Lys
XM_011527621.1:c.655G>A XP_011525923.1:p.Glu219Lys
XM_006722606.4:c.655G>A XP_006722669.1:p.Glu219Lys
XM_011527621.3:c.655G>A XP_011525923.1:p.Glu219Lys
XM_024451310.1:c.775G>A XP_024307078.1:p.Glu259Lys
XM_024451311.1:c.655G>A XP_024307079.1:p.Glu219Lys
XM_024451312.1:c.655G>A XP_024307080.1:p.Glu219Lys
NM_005804.4:c.1270G>A MANE Select NP_005795.2:p.Glu424Lys
Search 100 bp 5'
Search 100 bp 3'