Canonical Allele Identifier: CA10581363
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235576
ClinVar RCV Id: RCV000224114
dbSNP Id: rs878853071
MyVariant Identifiers: chrX:g.154004468C>G (hg19) chrX:g.154776193C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154776193C>G , CM000685.2:g.154776193C>G GRCh38
NC_000023.10:g.154004468C>G , CM000685.1:g.154004468C>G GRCh37
NC_000023.9:g.153657662C>G NCBI36
NG_009780.1:g.18438C>G , LRG_55:g.18438C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000413910.6:c.*141C>G ENSP00000400542.2:n.*141C>G
ENST00000426673.6:c.*787C>G ENSP00000407253.3:n.*787C>G
ENST00000484317.6:n.1619C>G
ENST00000492372.2:n.283C>G
ENST00000696575.1:c.1330C>G ENSP00000512730.1:p.Arg444Gly
ENST00000696577.1:c.1345C>G ENSP00000512731.1:p.Arg449Gly
ENST00000696578.1:c.*297C>G ENSP00000512732.1:n.*297C>G
ENST00000696579.1:n.2360C>G
ENST00000696580.1:c.1258C>G ENSP00000512733.1:p.Arg420Gly
ENST00000696581.1:c.*1319C>G ENSP00000512734.1:n.*1319C>G
ENST00000696582.1:c.*551C>G ENSP00000512735.1:n.*551C>G
ENST00000696583.1:c.1306C>G ENSP00000512736.1:p.Arg436Gly
ENST00000696584.1:n.1869C>G
ENST00000696585.1:n.1988C>G
ENST00000696586.1:n.1762C>G
ENST00000696587.1:c.1225C>G ENSP00000512737.1:p.Arg409Gly
ENST00000696588.1:c.736C>G ENSP00000513251.1:p.Arg246Gly
ENST00000696589.1:n.1120C>G
ENST00000696590.1:n.2371C>G
ENST00000696591.1:n.694C>G
ENST00000696592.1:n.3626C>G
ENST00000696627.1:c.*171C>G ENSP00000512764.1:n.*171C>G
ENST00000696628.1:c.1345C>G ENSP00000512765.1:p.Arg449Gly
ENST00000369550.10:c.1345C>G MANE Select ENSP00000358563.5:p.Arg449Gly
ENST00000369550.9:c.1345C>G ENSP00000358563.5:p.Arg449Gly
ENST00000412124.5:c.603C>G
ENST00000426673.5:c.764C>G
ENST00000475966.1:n.834C>G
ENST00000492372.1:n.162C>G
ENST00000620277.4:c.*571C>G ENSP00000478387.1:n.*571C>G
NM_001142463.2:c.1330C>G NP_001135935.1:p.Arg444Gly
NM_001288747.1:c.*571C>G NP_001275676.1:n.*571C>G
NM_001363.4:c.1345C>G NP_001354.1:p.Arg449Gly
NR_110021.1:n.2046C>G
NR_110022.1:n.2165C>G
NR_110023.1:n.1939C>G
NM_001363.5:c.1345C>G MANE Select NP_001354.1:p.Arg449Gly
NM_001142463.3:c.1330C>G NP_001135935.1:p.Arg444Gly
NR_110021.2:n.1924C>G
NR_110022.2:n.2043C>G
NR_110023.2:n.1817C>G
NM_001288747.2:c.*571C>G NP_001275676.1:n.*571C>G
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