Canonical Allele Identifier: CA255934
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11595
ClinVar RCV Id: RCV000012353 RCV002408457
dbSNP Id: rs137854492
MyVariant Identifiers: chrX:g.154001438A>G (hg19) chrX:g.154773163A>G (hg38)
PubMed: PMID:15842668
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773163A>G , CM000685.2:g.154773163A>G GRCh38
NC_000023.10:g.154001438A>G , CM000685.1:g.154001438A>G GRCh37
NC_000023.9:g.153654632A>G NCBI36
NG_009780.1:g.15408A>G , LRG_55:g.15408A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000413910.6:c.949A>G ENSP00000400542.2:p.Thr317Ala
ENST00000426673.6:c.*452A>G ENSP00000407253.3:n.*452A>G
ENST00000484317.6:n.854A>G
ENST00000696575.1:c.1069A>G ENSP00000512730.1:p.Thr357Ala
ENST00000696577.1:c.1069A>G ENSP00000512731.1:p.Thr357Ala
ENST00000696578.1:c.*21A>G ENSP00000512732.1:n.*21A>G
ENST00000696579.1:n.1171A>G
ENST00000696580.1:c.982A>G ENSP00000512733.1:p.Thr328Ala
ENST00000696581.1:c.*1043A>G ENSP00000512734.1:n.*1043A>G
ENST00000696582.1:c.*275A>G ENSP00000512735.1:n.*275A>G
ENST00000696583.1:c.1030A>G ENSP00000512736.1:p.Thr344Ala
ENST00000696584.1:n.1593A>G
ENST00000696585.1:n.1712A>G
ENST00000696586.1:n.1486A>G
ENST00000696587.1:c.949A>G ENSP00000512737.1:p.Thr317Ala
ENST00000696588.1:c.460A>G ENSP00000513251.1:p.Thr154Ala
ENST00000696589.1:n.844A>G
ENST00000696590.1:n.693A>G
ENST00000696591.1:n.418A>G
ENST00000696592.1:n.1948A>G
ENST00000696627.1:c.1069A>G ENSP00000512764.1:p.Thr357Ala
ENST00000696628.1:c.1069A>G ENSP00000512765.1:p.Thr357Ala
ENST00000369550.10:c.1069A>G MANE Select ENSP00000358563.5:p.Thr357Ala
ENST00000369550.9:c.1069A>G ENSP00000358563.5:p.Thr357Ala
ENST00000412124.5:c.327A>G
ENST00000426673.5:c.429A>G
ENST00000475966.1:n.558A>G
ENST00000481062.1:n.20A>G
ENST00000620277.4:c.1069A>G ENSP00000478387.1:p.Thr357Ala
NM_001142463.2:c.1069A>G NP_001135935.1:p.Thr357Ala
NM_001288747.1:c.1069A>G NP_001275676.1:p.Thr357Ala
NM_001363.4:c.1069A>G NP_001354.1:p.Thr357Ala
NR_110021.1:n.1770A>G
NR_110022.1:n.1889A>G
NR_110023.1:n.1663A>G
NM_001363.5:c.1069A>G MANE Select NP_001354.1:p.Thr357Ala
NM_001142463.3:c.1069A>G NP_001135935.1:p.Thr357Ala
NR_110021.2:n.1648A>G
NR_110022.2:n.1767A>G
NR_110023.2:n.1541A>G
NM_001288747.2:c.1069A>G NP_001275676.1:p.Thr357Ala
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