Canonical Allele Identifier: CA145273

Gene: DDX59

Linked Data

• ClinVar Variation Id: 88653
• ClinVar RCV Id: RCV000433647 ; RCV000074347
• dbSNP Id: rs587777067
• MyVariant Identifiers: chr1:g.200619767A>C (hg19) ; chr1:g.200650639A>C (hg38)
• PubMed: PMID:23972372

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200650639A>C , CM000663.2:g.200650639A>C	GRCh38
NC_000001.10:g.200619767A>C , CM000663.1:g.200619767A>C	GRCh37
NC_000001.9:g.198886390A>C	NCBI36
NG_053192.1:g.24360T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331314.11:c.1100T>G MANE Select	ENSP00000330460.6:p.Val367Gly
ENST00000331314.10:c.1100T>G	ENSP00000330460.6:p.Val367Gly
ENST00000413408.5:c.14T>G	ENSP00000394304.1:p.Val5Gly
ENST00000429498.5:c.47-1413T>G
ENST00000433235.1:c.29T>G	ENSP00000409954.1:p.Val10Gly
ENST00000447706.6:c.1100T>G	ENSP00000394367.2:p.Val367Gly
ENST00000453944.1:c.29T>G	ENSP00000398152.1:p.Val10Gly
NM_001031725.4:c.1100T>G	NP_001026895.2:p.Val367Gly
XM_005245519.1:c.1100T>G	XP_005245576.1:p.Val367Gly
XM_005245520.1:c.1100T>G	XP_005245577.1:p.Val367Gly
XM_005245521.1:c.1063-1413T>G	XP_005245578.1:n.1063-1413T>G
XM_006711562.1:c.1100T>G	XP_006711625.1:p.Val367Gly
XM_011510035.1:c.1100T>G	XP_011508337.1:p.Val367Gly
XR_921966.1:n.1325-1413T>G
XR_921967.1:n.1362T>G
NM_001031725.5:c.1100T>G	NP_001026895.2:p.Val367Gly
NM_001320181.1:c.1100T>G	NP_001307110.1:p.Val367Gly
NM_001320182.1:c.973-1413T>G	NP_001307111.1:n.973-1413T>G
NM_001349799.2:c.1100T>G	NP_001336728.1:p.Val367Gly
NM_001349800.2:c.1100T>G	NP_001336729.1:p.Val367Gly
NM_001349801.2:c.1100T>G	NP_001336730.1:p.Val367Gly
NM_001349802.2:c.1100T>G	NP_001336731.1:p.Val367Gly
NM_001349803.2:c.1063-1413T>G	NP_001336732.1:n.1063-1413T>G
NM_001349804.1:c.1063-6122T>G	NP_001336733.1:n.1063-6122T>G
XM_017002432.2:c.1100T>G	XP_016857921.1:p.Val367Gly
XR_001737463.2:n.1387-1413T>G
XR_921966.2:n.1387-1413T>G
XR_921967.3:n.1424T>G
NM_001031725.6:c.1100T>G MANE Select	NP_001026895.2:p.Val367Gly
NM_001320181.2:c.1100T>G	NP_001307110.1:p.Val367Gly
NM_001349802.3:c.1100T>G	NP_001336731.1:p.Val367Gly
NM_001349799.3:c.1100T>G	NP_001336728.1:p.Val367Gly
NM_001349800.3:c.1100T>G	NP_001336729.1:p.Val367Gly
NM_001349801.3:c.1100T>G	NP_001336730.1:p.Val367Gly
NM_001349803.3:c.1063-1413T>G	NP_001336732.1:n.1063-1413T>G
NM_001349804.2:c.1063-6122T>G	NP_001336733.1:n.1063-6122T>G