Canonical Allele Identifier: CA343211

Gene: DKC1

Linked Data

• ClinVar Variation Id: 38936
• ClinVar RCV Id: RCV000032187
• dbSNP Id: rs199422252
• MyVariant Identifiers: chrX:g.154002877G>A (hg19) ; chrX:g.154774602G>A (hg38)
• PubMed: PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154774602G>A , CM000685.2:g.154774602G>A	GRCh38
NC_000023.10:g.154002877G>A , CM000685.1:g.154002877G>A	GRCh37
NC_000023.9:g.153656071G>A	NCBI36
NG_009780.1:g.16847G>A , LRG_55:g.16847G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.1036G>A	ENSP00000400542.2:p.Ala346Thr
ENST00000426673.6:c.*539G>A	ENSP00000407253.3:n.*539G>A
ENST00000484317.6:n.941G>A
ENST00000696575.1:c.1156G>A	ENSP00000512730.1:p.Ala386Thr
ENST00000696577.1:c.1156G>A	ENSP00000512731.1:p.Ala386Thr
ENST00000696578.1:c.*108G>A	ENSP00000512732.1:n.*108G>A
ENST00000696579.1:n.1258G>A
ENST00000696580.1:c.1069G>A	ENSP00000512733.1:p.Ala357Thr
ENST00000696581.1:c.*1130G>A	ENSP00000512734.1:n.*1130G>A
ENST00000696582.1:c.*362G>A	ENSP00000512735.1:n.*362G>A
ENST00000696583.1:c.1117G>A	ENSP00000512736.1:p.Ala373Thr
ENST00000696584.1:n.1680G>A
ENST00000696585.1:n.1799G>A
ENST00000696586.1:n.1573G>A
ENST00000696587.1:c.1036G>A	ENSP00000512737.1:p.Ala346Thr
ENST00000696588.1:c.547G>A	ENSP00000513251.1:p.Ala183Thr
ENST00000696589.1:n.931G>A
ENST00000696590.1:n.780G>A
ENST00000696591.1:n.505G>A
ENST00000696592.1:n.2035G>A
ENST00000696627.1:c.1160-5G>A	ENSP00000512764.1:n.1160-5G>A
ENST00000696628.1:c.1156G>A	ENSP00000512765.1:p.Ala386Thr
ENST00000369550.10:c.1156G>A MANE Select	ENSP00000358563.5:p.Ala386Thr
ENST00000369550.9:c.1156G>A	ENSP00000358563.5:p.Ala386Thr
ENST00000412124.5:c.414G>A
ENST00000426673.5:c.516G>A
ENST00000475966.1:n.645G>A
ENST00000481062.1:n.107G>A
ENST00000620277.4:c.1156G>A	ENSP00000478387.1:p.Ala386Thr
NM_001142463.2:c.1156G>A	NP_001135935.1:p.Ala386Thr
NM_001288747.1:c.1156G>A	NP_001275676.1:p.Ala386Thr
NM_001363.4:c.1156G>A	NP_001354.1:p.Ala386Thr
NR_110021.1:n.1857G>A
NR_110022.1:n.1976G>A
NR_110023.1:n.1750G>A
NM_001363.5:c.1156G>A MANE Select	NP_001354.1:p.Ala386Thr
NM_001142463.3:c.1156G>A	NP_001135935.1:p.Ala386Thr
NR_110021.2:n.1735G>A
NR_110022.2:n.1854G>A
NR_110023.2:n.1628G>A
NM_001288747.2:c.1156G>A	NP_001275676.1:p.Ala386Thr