Canonical Allele Identifier: CA414895026

Gene: DKC1

Linked Data

• ClinVar Variation Id: 427887
• ClinVar RCV Id: RCV000491810
• dbSNP Id: rs1114167422
• MyVariant Identifiers: chrX:g.154001423A>G (hg19) ; chrX:g.154773148A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773148A>G , CM000685.2:g.154773148A>G	GRCh38
NC_000023.10:g.154001423A>G , CM000685.1:g.154001423A>G	GRCh37
NC_000023.9:g.153654617A>G	NCBI36
NG_009780.1:g.15393A>G , LRG_55:g.15393A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.934A>G	ENSP00000400542.2:p.Thr312Ala
ENST00000426673.6:c.*437A>G	ENSP00000407253.3:n.*437A>G
ENST00000484317.6:n.839A>G
ENST00000696575.1:c.1054A>G	ENSP00000512730.1:p.Thr352Ala
ENST00000696577.1:c.1054A>G	ENSP00000512731.1:p.Thr352Ala
ENST00000696578.1:c.*6A>G	ENSP00000512732.1:n.*6A>G
ENST00000696579.1:n.1156A>G
ENST00000696580.1:c.967A>G	ENSP00000512733.1:p.Thr323Ala
ENST00000696581.1:c.*1028A>G	ENSP00000512734.1:n.*1028A>G
ENST00000696582.1:c.*260A>G	ENSP00000512735.1:n.*260A>G
ENST00000696583.1:c.1015A>G	ENSP00000512736.1:p.Thr339Ala
ENST00000696584.1:n.1578A>G
ENST00000696585.1:n.1697A>G
ENST00000696586.1:n.1471A>G
ENST00000696587.1:c.934A>G	ENSP00000512737.1:p.Thr312Ala
ENST00000696588.1:c.445A>G	ENSP00000513251.1:p.Thr149Ala
ENST00000696589.1:n.829A>G
ENST00000696590.1:n.678A>G
ENST00000696591.1:n.403A>G
ENST00000696592.1:n.1933A>G
ENST00000696627.1:c.1054A>G	ENSP00000512764.1:p.Thr352Ala
ENST00000696628.1:c.1054A>G	ENSP00000512765.1:p.Thr352Ala
ENST00000369550.10:c.1054A>G MANE Select	ENSP00000358563.5:p.Thr352Ala
ENST00000369550.9:c.1054A>G	ENSP00000358563.5:p.Thr352Ala
ENST00000412124.5:c.312A>G
ENST00000426673.5:c.414A>G
ENST00000475966.1:n.543A>G
ENST00000481062.1:n.5A>G
ENST00000620277.4:c.1054A>G	ENSP00000478387.1:p.Thr352Ala
NM_001142463.2:c.1054A>G	NP_001135935.1:p.Thr352Ala
NM_001288747.1:c.1054A>G	NP_001275676.1:p.Thr352Ala
NM_001363.4:c.1054A>G	NP_001354.1:p.Thr352Ala
NR_110021.1:n.1755A>G
NR_110022.1:n.1874A>G
NR_110023.1:n.1648A>G
NM_001363.5:c.1054A>G MANE Select	NP_001354.1:p.Thr352Ala
NM_001142463.3:c.1054A>G	NP_001135935.1:p.Thr352Ala
NR_110021.2:n.1633A>G
NR_110022.2:n.1752A>G
NR_110023.2:n.1526A>G
NM_001288747.2:c.1054A>G	NP_001275676.1:p.Thr352Ala