Canonical Allele Identifier: CA519357871
Gene: DKC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.154001467C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773192C>T , CM000685.2:g.154773192C>T GRCh38
NC_000023.10:g.154001467C>T , CM000685.1:g.154001467C>T GRCh37
NC_000023.9:g.153654661C>T NCBI36
NG_009780.1:g.15437C>T , LRG_55:g.15437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.978C>T ENSP00000400542.2:p.Ile326=
ENST00000426673.6:c.*481C>T ENSP00000407253.3:n.*481C>T
ENST00000484317.6:n.883C>T
ENST00000696575.1:c.1098C>T ENSP00000512730.1:p.Ile366=
ENST00000696577.1:c.1098C>T ENSP00000512731.1:p.Ile366=
ENST00000696578.1:c.*50C>T ENSP00000512732.1:n.*50C>T
ENST00000696579.1:n.1200C>T
ENST00000696580.1:c.1011C>T ENSP00000512733.1:p.Ile337=
ENST00000696581.1:c.*1072C>T ENSP00000512734.1:n.*1072C>T
ENST00000696582.1:c.*304C>T ENSP00000512735.1:n.*304C>T
ENST00000696583.1:c.1059C>T ENSP00000512736.1:p.Ile353=
ENST00000696584.1:n.1622C>T
ENST00000696585.1:n.1741C>T
ENST00000696586.1:n.1515C>T
ENST00000696587.1:c.978C>T ENSP00000512737.1:p.Ile326=
ENST00000696588.1:c.489C>T ENSP00000513251.1:p.Ile163=
ENST00000696589.1:n.873C>T
ENST00000696590.1:n.722C>T
ENST00000696591.1:n.447C>T
ENST00000696592.1:n.1977C>T
ENST00000696627.1:c.1098C>T ENSP00000512764.1:p.Ile366=
ENST00000696628.1:c.1098C>T ENSP00000512765.1:p.Ile366=
ENST00000369550.10:c.1098C>T MANE Select ENSP00000358563.5:p.Ile366=
ENST00000369550.9:c.1098C>T ENSP00000358563.5:p.Ile366=
ENST00000412124.5:c.356C>T
ENST00000426673.5:c.458C>T
ENST00000475966.1:n.587C>T
ENST00000481062.1:n.49C>T
ENST00000620277.4:c.1098C>T ENSP00000478387.1:p.Ile366=
NM_001142463.2:c.1098C>T NP_001135935.1:p.Ile366=
NM_001288747.1:c.1098C>T NP_001275676.1:p.Ile366=
NM_001363.4:c.1098C>T NP_001354.1:p.Ile366=
NR_110021.1:n.1799C>T
NR_110022.1:n.1918C>T
NR_110023.1:n.1692C>T
NM_001363.5:c.1098C>T MANE Select NP_001354.1:p.Ile366=
NM_001142463.3:c.1098C>T NP_001135935.1:p.Ile366=
NR_110021.2:n.1677C>T
NR_110022.2:n.1796C>T
NR_110023.2:n.1570C>T
NM_001288747.2:c.1098C>T NP_001275676.1:p.Ile366=