Canonical Allele Identifier: CA519356174

Gene: DKC1

Linked Data

• dbSNP Id: rs2071791857
• MyVariant Identifiers: chrX:g.153997564G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769289G>A , CM000685.2:g.154769289G>A	GRCh38
NC_000023.10:g.153997564G>A , CM000685.1:g.153997564G>A	GRCh37
NC_000023.9:g.153650758G>A	NCBI36
NG_009780.1:g.11534G>A , LRG_55:g.11534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.774G>A	ENSP00000400542.2:p.Arg258=
ENST00000426673.6:c.*277G>A	ENSP00000407253.3:n.*277G>A
ENST00000484317.6:n.679G>A
ENST00000696575.1:c.894G>A	ENSP00000512730.1:p.Arg298=
ENST00000696576.1:n.996G>A
ENST00000696577.1:c.894G>A	ENSP00000512731.1:p.Arg298=
ENST00000696578.1:c.894G>A	ENSP00000512732.1:p.Arg298=
ENST00000696579.1:n.996G>A
ENST00000696580.1:c.807G>A	ENSP00000512733.1:p.Arg269=
ENST00000696581.1:c.*868G>A	ENSP00000512734.1:n.*868G>A
ENST00000696582.1:c.*100G>A	ENSP00000512735.1:n.*100G>A
ENST00000696583.1:c.855G>A	ENSP00000512736.1:p.Arg285=
ENST00000696584.1:n.1418G>A
ENST00000696585.1:n.1537G>A
ENST00000696586.1:n.1311G>A
ENST00000696587.1:c.774G>A	ENSP00000512737.1:p.Arg258=
ENST00000696588.1:c.285G>A	ENSP00000513251.1:p.Arg95=
ENST00000696589.1:n.669G>A
ENST00000696590.1:n.518G>A
ENST00000696591.1:n.243G>A
ENST00000696627.1:c.894G>A	ENSP00000512764.1:p.Arg298=
ENST00000696628.1:c.894G>A	ENSP00000512765.1:p.Arg298=
ENST00000369550.10:c.894G>A MANE Select	ENSP00000358563.5:p.Arg298=
ENST00000369550.9:c.894G>A	ENSP00000358563.5:p.Arg298=
ENST00000412124.5:c.174-1470G>A
ENST00000413910.5:c.774G>A	ENSP00000400542.1:p.Arg258=
ENST00000426673.5:c.254G>A
ENST00000475966.1:n.383G>A
ENST00000484317.5:n.532G>A
ENST00000620277.4:c.894G>A	ENSP00000478387.1:p.Arg298=
NM_001142463.2:c.894G>A	NP_001135935.1:p.Arg298=
NM_001288747.1:c.894G>A	NP_001275676.1:p.Arg298=
NM_001363.4:c.894G>A	NP_001354.1:p.Arg298=
NR_110021.1:n.1595G>A
NR_110022.1:n.1714G>A
NR_110023.1:n.1488G>A
NM_001363.5:c.894G>A MANE Select	NP_001354.1:p.Arg298=
NM_001142463.3:c.894G>A	NP_001135935.1:p.Arg298=
NR_110021.2:n.1473G>A
NR_110022.2:n.1592G>A
NR_110023.2:n.1366G>A
NM_001288747.2:c.894G>A	NP_001275676.1:p.Arg298=