Canonical Allele Identifier: CA519357936
Gene: DKC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.154001503G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773228G>T , CM000685.2:g.154773228G>T GRCh38
NC_000023.10:g.154001503G>T , CM000685.1:g.154001503G>T GRCh37
NC_000023.9:g.153654697G>T NCBI36
NG_009780.1:g.15473G>T , LRG_55:g.15473G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.1014G>T ENSP00000400542.2:p.Arg338=
ENST00000426673.6:c.*517G>T ENSP00000407253.3:n.*517G>T
ENST00000484317.6:n.919G>T
ENST00000696575.1:c.1134G>T ENSP00000512730.1:p.Arg378=
ENST00000696577.1:c.1134G>T ENSP00000512731.1:p.Arg378=
ENST00000696578.1:c.*86G>T ENSP00000512732.1:n.*86G>T
ENST00000696579.1:n.1236G>T
ENST00000696580.1:c.1047G>T ENSP00000512733.1:p.Arg349=
ENST00000696581.1:c.*1108G>T ENSP00000512734.1:n.*1108G>T
ENST00000696582.1:c.*340G>T ENSP00000512735.1:n.*340G>T
ENST00000696583.1:c.1095G>T ENSP00000512736.1:p.Arg365=
ENST00000696584.1:n.1658G>T
ENST00000696585.1:n.1777G>T
ENST00000696586.1:n.1551G>T
ENST00000696587.1:c.1014G>T ENSP00000512737.1:p.Arg338=
ENST00000696588.1:c.525G>T ENSP00000513251.1:p.Arg175=
ENST00000696589.1:n.909G>T
ENST00000696590.1:n.758G>T
ENST00000696591.1:n.483G>T
ENST00000696592.1:n.2013G>T
ENST00000696627.1:c.1134G>T ENSP00000512764.1:p.Arg378=
ENST00000696628.1:c.1134G>T ENSP00000512765.1:p.Arg378=
ENST00000369550.10:c.1134G>T MANE Select ENSP00000358563.5:p.Arg378=
ENST00000369550.9:c.1134G>T ENSP00000358563.5:p.Arg378=
ENST00000412124.5:c.392G>T
ENST00000426673.5:c.494G>T
ENST00000475966.1:n.623G>T
ENST00000481062.1:n.85G>T
ENST00000620277.4:c.1134G>T ENSP00000478387.1:p.Arg378=
NM_001142463.2:c.1134G>T NP_001135935.1:p.Arg378=
NM_001288747.1:c.1134G>T NP_001275676.1:p.Arg378=
NM_001363.4:c.1134G>T NP_001354.1:p.Arg378=
NR_110021.1:n.1835G>T
NR_110022.1:n.1954G>T
NR_110023.1:n.1728G>T
NM_001363.5:c.1134G>T MANE Select NP_001354.1:p.Arg378=
NM_001142463.3:c.1134G>T NP_001135935.1:p.Arg378=
NR_110021.2:n.1713G>T
NR_110022.2:n.1832G>T
NR_110023.2:n.1606G>T
NM_001288747.2:c.1134G>T NP_001275676.1:p.Arg378=