Canonical Allele Identifier: CA414896238

Gene: DKC1

Linked Data

• gnomAD v4: X-154773248-A-G
• MyVariant Identifiers: chrX:g.154001523A>G (hg19) ; chrX:g.154773248A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773248A>G , CM000685.2:g.154773248A>G	GRCh38
NC_000023.10:g.154001523A>G , CM000685.1:g.154001523A>G	GRCh37
NC_000023.9:g.153654717A>G	NCBI36
NG_009780.1:g.15493A>G , LRG_55:g.15493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1034A>G	ENSP00000400542.2:p.Lys345Arg
ENST00000426673.6:c.*537A>G	ENSP00000407253.3:n.*537A>G
ENST00000484317.6:n.939A>G
ENST00000696575.1:c.1154A>G	ENSP00000512730.1:p.Lys385Arg
ENST00000696577.1:c.1154A>G	ENSP00000512731.1:p.Lys385Arg
ENST00000696578.1:c.*106A>G	ENSP00000512732.1:n.*106A>G
ENST00000696579.1:n.1256A>G
ENST00000696580.1:c.1067A>G	ENSP00000512733.1:p.Lys356Arg
ENST00000696581.1:c.*1128A>G	ENSP00000512734.1:n.*1128A>G
ENST00000696582.1:c.*360A>G	ENSP00000512735.1:n.*360A>G
ENST00000696583.1:c.1115A>G	ENSP00000512736.1:p.Lys372Arg
ENST00000696584.1:n.1678A>G
ENST00000696585.1:n.1797A>G
ENST00000696586.1:n.1571A>G
ENST00000696587.1:c.1034A>G	ENSP00000512737.1:p.Lys345Arg
ENST00000696588.1:c.545A>G	ENSP00000513251.1:p.Lys182Arg
ENST00000696589.1:n.929A>G
ENST00000696590.1:n.778A>G
ENST00000696591.1:n.503A>G
ENST00000696592.1:n.2033A>G
ENST00000696627.1:c.1154A>G	ENSP00000512764.1:p.Lys385Arg
ENST00000696628.1:c.1154A>G	ENSP00000512765.1:p.Lys385Arg
ENST00000369550.10:c.1154A>G MANE Select	ENSP00000358563.5:p.Lys385Arg
ENST00000369550.9:c.1154A>G	ENSP00000358563.5:p.Lys385Arg
ENST00000412124.5:c.412A>G
ENST00000426673.5:c.514A>G
ENST00000475966.1:n.643A>G
ENST00000481062.1:n.105A>G
ENST00000620277.4:c.1154A>G	ENSP00000478387.1:p.Lys385Arg
NM_001142463.2:c.1154A>G	NP_001135935.1:p.Lys385Arg
NM_001288747.1:c.1154A>G	NP_001275676.1:p.Lys385Arg
NM_001363.4:c.1154A>G	NP_001354.1:p.Lys385Arg
NR_110021.1:n.1855A>G
NR_110022.1:n.1974A>G
NR_110023.1:n.1748A>G
NM_001363.5:c.1154A>G MANE Select	NP_001354.1:p.Lys385Arg
NM_001142463.3:c.1154A>G	NP_001135935.1:p.Lys385Arg
NR_110021.2:n.1733A>G
NR_110022.2:n.1852A>G
NR_110023.2:n.1626A>G
NM_001288747.2:c.1154A>G	NP_001275676.1:p.Lys385Arg