Canonical Allele Identifier: CA10567151

Gene: DKC1

Linked Data

• ClinVar Variation Id: 1711895
• ClinVar RCV Id: RCV002293613
• dbSNP Id: rs782079822
• ExAC: X:154001439 C / G
• gnomAD v2: X-154001439-C-G
• gnomAD v4: X-154773164-C-G
• MyVariant Identifiers: chrX:g.154001439C>G (hg19) ; chrX:g.154773164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773164C>G , CM000685.2:g.154773164C>G	GRCh38
NC_000023.10:g.154001439C>G , CM000685.1:g.154001439C>G	GRCh37
NC_000023.9:g.153654633C>G	NCBI36
NG_009780.1:g.15409C>G , LRG_55:g.15409C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.950C>G	ENSP00000400542.2:p.Thr317Ser
ENST00000426673.6:c.*453C>G	ENSP00000407253.3:n.*453C>G
ENST00000484317.6:n.855C>G
ENST00000696575.1:c.1070C>G	ENSP00000512730.1:p.Thr357Ser
ENST00000696577.1:c.1070C>G	ENSP00000512731.1:p.Thr357Ser
ENST00000696578.1:c.*22C>G	ENSP00000512732.1:n.*22C>G
ENST00000696579.1:n.1172C>G
ENST00000696580.1:c.983C>G	ENSP00000512733.1:p.Thr328Ser
ENST00000696581.1:c.*1044C>G	ENSP00000512734.1:n.*1044C>G
ENST00000696582.1:c.*276C>G	ENSP00000512735.1:n.*276C>G
ENST00000696583.1:c.1031C>G	ENSP00000512736.1:p.Thr344Ser
ENST00000696584.1:n.1594C>G
ENST00000696585.1:n.1713C>G
ENST00000696586.1:n.1487C>G
ENST00000696587.1:c.950C>G	ENSP00000512737.1:p.Thr317Ser
ENST00000696588.1:c.461C>G	ENSP00000513251.1:p.Thr154Ser
ENST00000696589.1:n.845C>G
ENST00000696590.1:n.694C>G
ENST00000696591.1:n.419C>G
ENST00000696592.1:n.1949C>G
ENST00000696627.1:c.1070C>G	ENSP00000512764.1:p.Thr357Ser
ENST00000696628.1:c.1070C>G	ENSP00000512765.1:p.Thr357Ser
ENST00000369550.10:c.1070C>G MANE Select	ENSP00000358563.5:p.Thr357Ser
ENST00000369550.9:c.1070C>G	ENSP00000358563.5:p.Thr357Ser
ENST00000412124.5:c.328C>G
ENST00000426673.5:c.430C>G
ENST00000475966.1:n.559C>G
ENST00000481062.1:n.21C>G
ENST00000620277.4:c.1070C>G	ENSP00000478387.1:p.Thr357Ser
NM_001142463.2:c.1070C>G	NP_001135935.1:p.Thr357Ser
NM_001288747.1:c.1070C>G	NP_001275676.1:p.Thr357Ser
NM_001363.4:c.1070C>G	NP_001354.1:p.Thr357Ser
NR_110021.1:n.1771C>G
NR_110022.1:n.1890C>G
NR_110023.1:n.1664C>G
NM_001363.5:c.1070C>G MANE Select	NP_001354.1:p.Thr357Ser
NM_001142463.3:c.1070C>G	NP_001135935.1:p.Thr357Ser
NR_110021.2:n.1649C>G
NR_110022.2:n.1768C>G
NR_110023.2:n.1542C>G
NM_001288747.2:c.1070C>G	NP_001275676.1:p.Thr357Ser