Canonical Allele Identifier: CA343245
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38951
dbSNP Id: rs121912303

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154762970C>T , CM000685.2:g.154762970C>T GRCh38
NC_000023.10:g.153991245C>T , CM000685.1:g.153991245C>T GRCh37
NC_000023.9:g.153644439C>T NCBI36
NG_009780.1:g.5215C>T , LRG_55:g.5215C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000413910.6:c.5C>T ENSP00000400542.2:p.Ala2Val
ENST00000426673.6:c.5C>T ENSP00000407253.3:p.Ala2Val
ENST00000696575.1:c.5C>T ENSP00000512730.1:p.Ala2Val
ENST00000696576.1:n.107C>T
ENST00000696577.1:c.5C>T ENSP00000512731.1:p.Ala2Val
ENST00000696578.1:c.5C>T ENSP00000512732.1:p.Ala2Val
ENST00000696579.1:n.107C>T
ENST00000696580.1:c.5C>T ENSP00000512733.1:p.Ala2Val
ENST00000696581.1:c.5C>T ENSP00000512734.1:p.Ala2Val
ENST00000696582.1:c.5C>T ENSP00000512735.1:p.Ala2Val
ENST00000696583.1:c.5C>T ENSP00000512736.1:p.Ala2Val
ENST00000696584.1:n.52C>T
ENST00000696585.1:n.52C>T
ENST00000696586.1:n.52C>T
ENST00000696587.1:c.5C>T ENSP00000512737.1:p.Ala2Val
ENST00000696627.1:c.5C>T ENSP00000512764.1:p.Ala2Val
ENST00000696628.1:c.5C>T ENSP00000512765.1:p.Ala2Val
ENST00000369550.10:c.5C>T MANE Select ENSP00000358563.5:p.Ala2Val
ENST00000369550.9:c.5C>T ENSP00000358563.5:p.Ala2Val
ENST00000413910.5:c.5C>T ENSP00000400542.1:p.Ala2Val
ENST00000473552.1:n.58C>T
ENST00000475423.1:n.119C>T
ENST00000620277.4:c.5C>T ENSP00000478387.1:p.Ala2Val
NM_001142463.2:c.5C>T NP_001135935.1:p.Ala2Val
NM_001288747.1:c.5C>T NP_001275676.1:p.Ala2Val
NM_001363.4:c.5C>T NP_001354.1:p.Ala2Val
NR_110021.1:n.229C>T
NR_110022.1:n.229C>T
NR_110023.1:n.229C>T
NM_001363.5:c.5C>T MANE Select NP_001354.1:p.Ala2Val
NM_001142463.3:c.5C>T NP_001135935.1:p.Ala2Val
NR_110021.2:n.107C>T
NR_110022.2:n.107C>T
NR_110023.2:n.107C>T
NM_001288747.2:c.5C>T NP_001275676.1:p.Ala2Val