Canonical Allele Identifier: CA414891665

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997563G>A (hg19) ; chrX:g.154769288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769288G>A , CM000685.2:g.154769288G>A	GRCh38
NC_000023.10:g.153997563G>A , CM000685.1:g.153997563G>A	GRCh37
NC_000023.9:g.153650757G>A	NCBI36
NG_009780.1:g.11533G>A , LRG_55:g.11533G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.773G>A	ENSP00000400542.2:p.Arg258Gln
ENST00000426673.6:c.*276G>A	ENSP00000407253.3:n.*276G>A
ENST00000484317.6:n.678G>A
ENST00000696575.1:c.893G>A	ENSP00000512730.1:p.Arg298Gln
ENST00000696576.1:n.995G>A
ENST00000696577.1:c.893G>A	ENSP00000512731.1:p.Arg298Gln
ENST00000696578.1:c.893G>A	ENSP00000512732.1:p.Arg298Gln
ENST00000696579.1:n.995G>A
ENST00000696580.1:c.806G>A	ENSP00000512733.1:p.Arg269Gln
ENST00000696581.1:c.*867G>A	ENSP00000512734.1:n.*867G>A
ENST00000696582.1:c.*99G>A	ENSP00000512735.1:n.*99G>A
ENST00000696583.1:c.854G>A	ENSP00000512736.1:p.Arg285Gln
ENST00000696584.1:n.1417G>A
ENST00000696585.1:n.1536G>A
ENST00000696586.1:n.1310G>A
ENST00000696587.1:c.773G>A	ENSP00000512737.1:p.Arg258Gln
ENST00000696588.1:c.284G>A	ENSP00000513251.1:p.Arg95Gln
ENST00000696589.1:n.668G>A
ENST00000696590.1:n.517G>A
ENST00000696591.1:n.242G>A
ENST00000696627.1:c.893G>A	ENSP00000512764.1:p.Arg298Gln
ENST00000696628.1:c.893G>A	ENSP00000512765.1:p.Arg298Gln
ENST00000369550.10:c.893G>A MANE Select	ENSP00000358563.5:p.Arg298Gln
ENST00000369550.9:c.893G>A	ENSP00000358563.5:p.Arg298Gln
ENST00000412124.5:c.174-1471G>A
ENST00000413910.5:c.773G>A	ENSP00000400542.1:p.Arg258Gln
ENST00000426673.5:c.253G>A
ENST00000475966.1:n.382G>A
ENST00000484317.5:n.531G>A
ENST00000620277.4:c.893G>A	ENSP00000478387.1:p.Arg298Gln
NM_001142463.2:c.893G>A	NP_001135935.1:p.Arg298Gln
NM_001288747.1:c.893G>A	NP_001275676.1:p.Arg298Gln
NM_001363.4:c.893G>A	NP_001354.1:p.Arg298Gln
NR_110021.1:n.1594G>A
NR_110022.1:n.1713G>A
NR_110023.1:n.1487G>A
NM_001363.5:c.893G>A MANE Select	NP_001354.1:p.Arg298Gln
NM_001142463.3:c.893G>A	NP_001135935.1:p.Arg298Gln
NR_110021.2:n.1472G>A
NR_110022.2:n.1591G>A
NR_110023.2:n.1365G>A
NM_001288747.2:c.893G>A	NP_001275676.1:p.Arg298Gln