Canonical Allele Identifier: CA519357820
Gene: DKC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.154001440C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773165C>G , CM000685.2:g.154773165C>G GRCh38
NC_000023.10:g.154001440C>G , CM000685.1:g.154001440C>G GRCh37
NC_000023.9:g.153654634C>G NCBI36
NG_009780.1:g.15410C>G , LRG_55:g.15410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.951C>G ENSP00000400542.2:p.Thr317=
ENST00000426673.6:c.*454C>G ENSP00000407253.3:n.*454C>G
ENST00000484317.6:n.856C>G
ENST00000696575.1:c.1071C>G ENSP00000512730.1:p.Thr357=
ENST00000696577.1:c.1071C>G ENSP00000512731.1:p.Thr357=
ENST00000696578.1:c.*23C>G ENSP00000512732.1:n.*23C>G
ENST00000696579.1:n.1173C>G
ENST00000696580.1:c.984C>G ENSP00000512733.1:p.Thr328=
ENST00000696581.1:c.*1045C>G ENSP00000512734.1:n.*1045C>G
ENST00000696582.1:c.*277C>G ENSP00000512735.1:n.*277C>G
ENST00000696583.1:c.1032C>G ENSP00000512736.1:p.Thr344=
ENST00000696584.1:n.1595C>G
ENST00000696585.1:n.1714C>G
ENST00000696586.1:n.1488C>G
ENST00000696587.1:c.951C>G ENSP00000512737.1:p.Thr317=
ENST00000696588.1:c.462C>G ENSP00000513251.1:p.Thr154=
ENST00000696589.1:n.846C>G
ENST00000696590.1:n.695C>G
ENST00000696591.1:n.420C>G
ENST00000696592.1:n.1950C>G
ENST00000696627.1:c.1071C>G ENSP00000512764.1:p.Thr357=
ENST00000696628.1:c.1071C>G ENSP00000512765.1:p.Thr357=
ENST00000369550.10:c.1071C>G MANE Select ENSP00000358563.5:p.Thr357=
ENST00000369550.9:c.1071C>G ENSP00000358563.5:p.Thr357=
ENST00000412124.5:c.329C>G
ENST00000426673.5:c.431C>G
ENST00000475966.1:n.560C>G
ENST00000481062.1:n.22C>G
ENST00000620277.4:c.1071C>G ENSP00000478387.1:p.Thr357=
NM_001142463.2:c.1071C>G NP_001135935.1:p.Thr357=
NM_001288747.1:c.1071C>G NP_001275676.1:p.Thr357=
NM_001363.4:c.1071C>G NP_001354.1:p.Thr357=
NR_110021.1:n.1772C>G
NR_110022.1:n.1891C>G
NR_110023.1:n.1665C>G
NM_001363.5:c.1071C>G MANE Select NP_001354.1:p.Thr357=
NM_001142463.3:c.1071C>G NP_001135935.1:p.Thr357=
NR_110021.2:n.1650C>G
NR_110022.2:n.1769C>G
NR_110023.2:n.1543C>G
NM_001288747.2:c.1071C>G NP_001275676.1:p.Thr357=