Canonical Allele Identifier: CA16608850

Gene: DKC1

Linked Data

• ClinVar Variation Id: 379736
• ClinVar RCV Id: RCV000442656 ; RCV000779660 ; RCV001257984 ; RCV003530047
• dbSNP Id: rs1057520719
• MyVariant Identifiers: chrX:g.154001502G>A (hg19) ; chrX:g.154773227G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773227G>A , CM000685.2:g.154773227G>A	GRCh38
NC_000023.10:g.154001502G>A , CM000685.1:g.154001502G>A	GRCh37
NC_000023.9:g.153654696G>A	NCBI36
NG_009780.1:g.15472G>A , LRG_55:g.15472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1013G>A	ENSP00000400542.2:p.Arg338Gln
ENST00000426673.6:c.*516G>A	ENSP00000407253.3:n.*516G>A
ENST00000484317.6:n.918G>A
ENST00000696575.1:c.1133G>A	ENSP00000512730.1:p.Arg378Gln
ENST00000696577.1:c.1133G>A	ENSP00000512731.1:p.Arg378Gln
ENST00000696578.1:c.*85G>A	ENSP00000512732.1:n.*85G>A
ENST00000696579.1:n.1235G>A
ENST00000696580.1:c.1046G>A	ENSP00000512733.1:p.Arg349Gln
ENST00000696581.1:c.*1107G>A	ENSP00000512734.1:n.*1107G>A
ENST00000696582.1:c.*339G>A	ENSP00000512735.1:n.*339G>A
ENST00000696583.1:c.1094G>A	ENSP00000512736.1:p.Arg365Gln
ENST00000696584.1:n.1657G>A
ENST00000696585.1:n.1776G>A
ENST00000696586.1:n.1550G>A
ENST00000696587.1:c.1013G>A	ENSP00000512737.1:p.Arg338Gln
ENST00000696588.1:c.524G>A	ENSP00000513251.1:p.Arg175Gln
ENST00000696589.1:n.908G>A
ENST00000696590.1:n.757G>A
ENST00000696591.1:n.482G>A
ENST00000696592.1:n.2012G>A
ENST00000696627.1:c.1133G>A	ENSP00000512764.1:p.Arg378Gln
ENST00000696628.1:c.1133G>A	ENSP00000512765.1:p.Arg378Gln
ENST00000369550.10:c.1133G>A MANE Select	ENSP00000358563.5:p.Arg378Gln
ENST00000369550.9:c.1133G>A	ENSP00000358563.5:p.Arg378Gln
ENST00000412124.5:c.391G>A
ENST00000426673.5:c.493G>A
ENST00000475966.1:n.622G>A
ENST00000481062.1:n.84G>A
ENST00000620277.4:c.1133G>A	ENSP00000478387.1:p.Arg378Gln
NM_001142463.2:c.1133G>A	NP_001135935.1:p.Arg378Gln
NM_001288747.1:c.1133G>A	NP_001275676.1:p.Arg378Gln
NM_001363.4:c.1133G>A	NP_001354.1:p.Arg378Gln
NR_110021.1:n.1834G>A
NR_110022.1:n.1953G>A
NR_110023.1:n.1727G>A
NM_001363.5:c.1133G>A MANE Select	NP_001354.1:p.Arg378Gln
NM_001142463.3:c.1133G>A	NP_001135935.1:p.Arg378Gln
NR_110021.2:n.1712G>A
NR_110022.2:n.1831G>A
NR_110023.2:n.1605G>A
NM_001288747.2:c.1133G>A	NP_001275676.1:p.Arg378Gln