Canonical Allele Identifier: CA343228
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38943
ClinVar RCV Id: RCV000032194
dbSNP Id: rs199422243

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154765486A>G , CM000685.2:g.154765486A>G GRCh38
NC_000023.10:g.153993761A>G , CM000685.1:g.153993761A>G GRCh37
NC_000023.9:g.153646955A>G NCBI36
NG_009780.1:g.7731A>G , LRG_55:g.7731A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000413910.6:c.127A>G ENSP00000400542.2:p.Lys43Glu
ENST00000426673.6:c.127A>G ENSP00000407253.3:p.Lys43Glu
ENST00000696575.1:c.127A>G ENSP00000512730.1:p.Lys43Glu
ENST00000696576.1:n.229A>G
ENST00000696577.1:c.127A>G ENSP00000512731.1:p.Lys43Glu
ENST00000696578.1:c.127A>G ENSP00000512732.1:p.Lys43Glu
ENST00000696579.1:n.229A>G
ENST00000696580.1:c.85-421A>G ENSP00000512733.1:n.85-421A>G
ENST00000696581.1:c.*101A>G ENSP00000512734.1:n.*101A>G
ENST00000696582.1:c.127A>G ENSP00000512735.1:p.Lys43Glu
ENST00000696583.1:c.127A>G ENSP00000512736.1:p.Lys43Glu
ENST00000696584.1:n.651A>G
ENST00000696585.1:n.174A>G
ENST00000696586.1:n.174A>G
ENST00000696587.1:c.127A>G ENSP00000512737.1:p.Lys43Glu
ENST00000696588.1:c.-483A>G ENSP00000513251.1:n.-483A>G
ENST00000696627.1:c.127A>G ENSP00000512764.1:p.Lys43Glu
ENST00000696628.1:c.127A>G ENSP00000512765.1:p.Lys43Glu
ENST00000369550.10:c.127A>G MANE Select ENSP00000358563.5:p.Lys43Glu
ENST00000369550.9:c.127A>G ENSP00000358563.5:p.Lys43Glu
ENST00000413910.5:c.127A>G ENSP00000400542.1:p.Lys43Glu
ENST00000437719.5:c.83A>G
ENST00000452771.5:c.85A>G ENSP00000407325.1:p.Lys29Glu
ENST00000473552.1:n.180A>G
ENST00000620277.4:c.127A>G ENSP00000478387.1:p.Lys43Glu
NM_001142463.2:c.127A>G NP_001135935.1:p.Lys43Glu
NM_001288747.1:c.127A>G NP_001275676.1:p.Lys43Glu
NM_001363.4:c.127A>G NP_001354.1:p.Lys43Glu
NR_110021.1:n.828A>G
NR_110022.1:n.351A>G
NR_110023.1:n.351A>G
NM_001363.5:c.127A>G MANE Select NP_001354.1:p.Lys43Glu
NM_001142463.3:c.127A>G NP_001135935.1:p.Lys43Glu
NR_110021.2:n.706A>G
NR_110022.2:n.229A>G
NR_110023.2:n.229A>G
NM_001288747.2:c.127A>G NP_001275676.1:p.Lys43Glu