Canonical Allele Identifier: CA414895403

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001468A>G (hg19) ; chrX:g.154773193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773193A>G , CM000685.2:g.154773193A>G	GRCh38
NC_000023.10:g.154001468A>G , CM000685.1:g.154001468A>G	GRCh37
NC_000023.9:g.153654662A>G	NCBI36
NG_009780.1:g.15438A>G , LRG_55:g.15438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.979A>G	ENSP00000400542.2:p.Lys327Glu
ENST00000426673.6:c.*482A>G	ENSP00000407253.3:n.*482A>G
ENST00000484317.6:n.884A>G
ENST00000696575.1:c.1099A>G	ENSP00000512730.1:p.Lys367Glu
ENST00000696577.1:c.1099A>G	ENSP00000512731.1:p.Lys367Glu
ENST00000696578.1:c.*51A>G	ENSP00000512732.1:n.*51A>G
ENST00000696579.1:n.1201A>G
ENST00000696580.1:c.1012A>G	ENSP00000512733.1:p.Lys338Glu
ENST00000696581.1:c.*1073A>G	ENSP00000512734.1:n.*1073A>G
ENST00000696582.1:c.*305A>G	ENSP00000512735.1:n.*305A>G
ENST00000696583.1:c.1060A>G	ENSP00000512736.1:p.Lys354Glu
ENST00000696584.1:n.1623A>G
ENST00000696585.1:n.1742A>G
ENST00000696586.1:n.1516A>G
ENST00000696587.1:c.979A>G	ENSP00000512737.1:p.Lys327Glu
ENST00000696588.1:c.490A>G	ENSP00000513251.1:p.Lys164Glu
ENST00000696589.1:n.874A>G
ENST00000696590.1:n.723A>G
ENST00000696591.1:n.448A>G
ENST00000696592.1:n.1978A>G
ENST00000696627.1:c.1099A>G	ENSP00000512764.1:p.Lys367Glu
ENST00000696628.1:c.1099A>G	ENSP00000512765.1:p.Lys367Glu
ENST00000369550.10:c.1099A>G MANE Select	ENSP00000358563.5:p.Lys367Glu
ENST00000369550.9:c.1099A>G	ENSP00000358563.5:p.Lys367Glu
ENST00000412124.5:c.357A>G
ENST00000426673.5:c.459A>G
ENST00000475966.1:n.588A>G
ENST00000481062.1:n.50A>G
ENST00000620277.4:c.1099A>G	ENSP00000478387.1:p.Lys367Glu
NM_001142463.2:c.1099A>G	NP_001135935.1:p.Lys367Glu
NM_001288747.1:c.1099A>G	NP_001275676.1:p.Lys367Glu
NM_001363.4:c.1099A>G	NP_001354.1:p.Lys367Glu
NR_110021.1:n.1800A>G
NR_110022.1:n.1919A>G
NR_110023.1:n.1693A>G
NM_001363.5:c.1099A>G MANE Select	NP_001354.1:p.Lys367Glu
NM_001142463.3:c.1099A>G	NP_001135935.1:p.Lys367Glu
NR_110021.2:n.1678A>G
NR_110022.2:n.1797A>G
NR_110023.2:n.1571A>G
NM_001288747.2:c.1099A>G	NP_001275676.1:p.Lys367Glu