Canonical Allele Identifier: CA343234

Gene: DKC1

Linked Data

• ClinVar Variation Id: 38946
• ClinVar RCV Id: RCV000032197 ; RCV001551970 ; RCV003529927
• dbSNP Id: rs121912297
• MyVariant Identifiers: chrX:g.153994206A>G (hg19) ; chrX:g.154765931A>G (hg38)
• PubMed: PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765931A>G , CM000685.2:g.154765931A>G	GRCh38
NC_000023.10:g.153994206A>G , CM000685.1:g.153994206A>G	GRCh37
NC_000023.9:g.153647400A>G	NCBI36
NG_009780.1:g.8176A>G , LRG_55:g.8176A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.196A>G	ENSP00000400542.2:p.Thr66Ala
ENST00000426673.6:c.196A>G	ENSP00000407253.3:p.Thr66Ala
ENST00000696575.1:c.196A>G	ENSP00000512730.1:p.Thr66Ala
ENST00000696576.1:n.298A>G
ENST00000696577.1:c.196A>G	ENSP00000512731.1:p.Thr66Ala
ENST00000696578.1:c.196A>G	ENSP00000512732.1:p.Thr66Ala
ENST00000696579.1:n.298A>G
ENST00000696580.1:c.109A>G	ENSP00000512733.1:p.Thr37Ala
ENST00000696581.1:c.*170A>G	ENSP00000512734.1:n.*170A>G
ENST00000696582.1:c.196A>G	ENSP00000512735.1:p.Thr66Ala
ENST00000696583.1:c.196A>G	ENSP00000512736.1:p.Thr66Ala
ENST00000696584.1:n.720A>G
ENST00000696585.1:n.243A>G
ENST00000696586.1:n.243A>G
ENST00000696587.1:c.196A>G	ENSP00000512737.1:p.Thr66Ala
ENST00000696588.1:c.-414A>G	ENSP00000513251.1:n.-414A>G
ENST00000696627.1:c.196A>G	ENSP00000512764.1:p.Thr66Ala
ENST00000696628.1:c.196A>G	ENSP00000512765.1:p.Thr66Ala
ENST00000369550.10:c.196A>G MANE Select	ENSP00000358563.5:p.Thr66Ala
ENST00000369550.9:c.196A>G	ENSP00000358563.5:p.Thr66Ala
ENST00000413910.5:c.196A>G	ENSP00000400542.1:p.Thr66Ala
ENST00000437719.5:c.152A>G
ENST00000452771.5:c.154A>G	ENSP00000407325.1:p.Thr52Ala
ENST00000473552.1:n.249A>G
ENST00000620277.4:c.196A>G	ENSP00000478387.1:p.Thr66Ala
NM_001142463.2:c.196A>G	NP_001135935.1:p.Thr66Ala
NM_001288747.1:c.196A>G	NP_001275676.1:p.Thr66Ala
NM_001363.4:c.196A>G	NP_001354.1:p.Thr66Ala
NR_110021.1:n.897A>G
NR_110022.1:n.420A>G
NR_110023.1:n.420A>G
NM_001363.5:c.196A>G MANE Select	NP_001354.1:p.Thr66Ala
NM_001142463.3:c.196A>G	NP_001135935.1:p.Thr66Ala
NR_110021.2:n.775A>G
NR_110022.2:n.298A>G
NR_110023.2:n.298A>G
NM_001288747.2:c.196A>G	NP_001275676.1:p.Thr66Ala