Canonical Allele Identifier: CA519357962
Gene: DKC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.154001515A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773240A>G , CM000685.2:g.154773240A>G GRCh38
NC_000023.10:g.154001515A>G , CM000685.1:g.154001515A>G GRCh37
NC_000023.9:g.153654709A>G NCBI36
NG_009780.1:g.15485A>G , LRG_55:g.15485A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.1026A>G ENSP00000400542.2:p.Leu342=
ENST00000426673.6:c.*529A>G ENSP00000407253.3:n.*529A>G
ENST00000484317.6:n.931A>G
ENST00000696575.1:c.1146A>G ENSP00000512730.1:p.Leu382=
ENST00000696577.1:c.1146A>G ENSP00000512731.1:p.Leu382=
ENST00000696578.1:c.*98A>G ENSP00000512732.1:n.*98A>G
ENST00000696579.1:n.1248A>G
ENST00000696580.1:c.1059A>G ENSP00000512733.1:p.Leu353=
ENST00000696581.1:c.*1120A>G ENSP00000512734.1:n.*1120A>G
ENST00000696582.1:c.*352A>G ENSP00000512735.1:n.*352A>G
ENST00000696583.1:c.1107A>G ENSP00000512736.1:p.Leu369=
ENST00000696584.1:n.1670A>G
ENST00000696585.1:n.1789A>G
ENST00000696586.1:n.1563A>G
ENST00000696587.1:c.1026A>G ENSP00000512737.1:p.Leu342=
ENST00000696588.1:c.537A>G ENSP00000513251.1:p.Leu179=
ENST00000696589.1:n.921A>G
ENST00000696590.1:n.770A>G
ENST00000696591.1:n.495A>G
ENST00000696592.1:n.2025A>G
ENST00000696627.1:c.1146A>G ENSP00000512764.1:p.Leu382=
ENST00000696628.1:c.1146A>G ENSP00000512765.1:p.Leu382=
ENST00000369550.10:c.1146A>G MANE Select ENSP00000358563.5:p.Leu382=
ENST00000369550.9:c.1146A>G ENSP00000358563.5:p.Leu382=
ENST00000412124.5:c.404A>G
ENST00000426673.5:c.506A>G
ENST00000475966.1:n.635A>G
ENST00000481062.1:n.97A>G
ENST00000620277.4:c.1146A>G ENSP00000478387.1:p.Leu382=
NM_001142463.2:c.1146A>G NP_001135935.1:p.Leu382=
NM_001288747.1:c.1146A>G NP_001275676.1:p.Leu382=
NM_001363.4:c.1146A>G NP_001354.1:p.Leu382=
NR_110021.1:n.1847A>G
NR_110022.1:n.1966A>G
NR_110023.1:n.1740A>G
NM_001363.5:c.1146A>G MANE Select NP_001354.1:p.Leu382=
NM_001142463.3:c.1146A>G NP_001135935.1:p.Leu382=
NR_110021.2:n.1725A>G
NR_110022.2:n.1844A>G
NR_110023.2:n.1618A>G
NM_001288747.2:c.1146A>G NP_001275676.1:p.Leu382=