Canonical Allele Identifier: CA343228
Gene: DKC1 HGNC NCBI

Identifiers and link-outs to other resources

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

User contributed link-outs

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
NM_001142463.2:c.127A>G VV NP_001135935.1:p.Lys43Glu
NM_001288747.1:c.127A>G VV NP_001275676.1:p.Lys43Glu
NM_001363.4:c.127A>G VV 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 VV MANE Preferred NP_001354.1:p.Lys43Glu
ENST00000369550.9:c.127A>G ENSP00000358563.5:p.Lys43Glu
ENST00000413910.5:c.127A>G ENSP00000400542.1:p.Lys43Glu
ENST00000437719.5:n.83A>G
ENST00000452771.5:n.85A>G ENSP00000407325.1:p.Lys29Glu
ENST00000473552.1:n.180A>G
ENST00000620277.4:c.127A>G ENSP00000478387.1:p.Lys43Glu