Canonical Allele Identifier: CA414896124

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001510G>C (hg19) ; chrX:g.154773235G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773235G>C , CM000685.2:g.154773235G>C	GRCh38
NC_000023.10:g.154001510G>C , CM000685.1:g.154001510G>C	GRCh37
NC_000023.9:g.153654704G>C	NCBI36
NG_009780.1:g.15480G>C , LRG_55:g.15480G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1021G>C	ENSP00000400542.2:p.Gly341Arg
ENST00000426673.6:c.*524G>C	ENSP00000407253.3:n.*524G>C
ENST00000484317.6:n.926G>C
ENST00000696575.1:c.1141G>C	ENSP00000512730.1:p.Gly381Arg
ENST00000696577.1:c.1141G>C	ENSP00000512731.1:p.Gly381Arg
ENST00000696578.1:c.*93G>C	ENSP00000512732.1:n.*93G>C
ENST00000696579.1:n.1243G>C
ENST00000696580.1:c.1054G>C	ENSP00000512733.1:p.Gly352Arg
ENST00000696581.1:c.*1115G>C	ENSP00000512734.1:n.*1115G>C
ENST00000696582.1:c.*347G>C	ENSP00000512735.1:n.*347G>C
ENST00000696583.1:c.1102G>C	ENSP00000512736.1:p.Gly368Arg
ENST00000696584.1:n.1665G>C
ENST00000696585.1:n.1784G>C
ENST00000696586.1:n.1558G>C
ENST00000696587.1:c.1021G>C	ENSP00000512737.1:p.Gly341Arg
ENST00000696588.1:c.532G>C	ENSP00000513251.1:p.Gly178Arg
ENST00000696589.1:n.916G>C
ENST00000696590.1:n.765G>C
ENST00000696591.1:n.490G>C
ENST00000696592.1:n.2020G>C
ENST00000696627.1:c.1141G>C	ENSP00000512764.1:p.Gly381Arg
ENST00000696628.1:c.1141G>C	ENSP00000512765.1:p.Gly381Arg
ENST00000369550.10:c.1141G>C MANE Select	ENSP00000358563.5:p.Gly381Arg
ENST00000369550.9:c.1141G>C	ENSP00000358563.5:p.Gly381Arg
ENST00000412124.5:c.399G>C
ENST00000426673.5:c.501G>C
ENST00000475966.1:n.630G>C
ENST00000481062.1:n.92G>C
ENST00000620277.4:c.1141G>C	ENSP00000478387.1:p.Gly381Arg
NM_001142463.2:c.1141G>C	NP_001135935.1:p.Gly381Arg
NM_001288747.1:c.1141G>C	NP_001275676.1:p.Gly381Arg
NM_001363.4:c.1141G>C	NP_001354.1:p.Gly381Arg
NR_110021.1:n.1842G>C
NR_110022.1:n.1961G>C
NR_110023.1:n.1735G>C
NM_001363.5:c.1141G>C MANE Select	NP_001354.1:p.Gly381Arg
NM_001142463.3:c.1141G>C	NP_001135935.1:p.Gly381Arg
NR_110021.2:n.1720G>C
NR_110022.2:n.1839G>C
NR_110023.2:n.1613G>C
NM_001288747.2:c.1141G>C	NP_001275676.1:p.Gly381Arg