Canonical Allele Identifier: CA414894913
Gene: DKC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773137C>G , CM000685.2:g.154773137C>G GRCh38
NC_000023.10:g.154001412C>G , CM000685.1:g.154001412C>G GRCh37
NC_000023.9:g.153654606C>G NCBI36
NG_009780.1:g.15382C>G , LRG_55:g.15382C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.923C>G ENSP00000400542.2:p.Ala308Gly
ENST00000426673.6:c.*426C>G ENSP00000407253.3:n.*426C>G
ENST00000484317.6:n.828C>G
ENST00000696575.1:c.1043C>G ENSP00000512730.1:p.Ala348Gly
ENST00000696577.1:c.1043C>G ENSP00000512731.1:p.Ala348Gly
ENST00000696578.1:c.922C>G ENSP00000512732.1:p.His308Asp
ENST00000696579.1:n.1145C>G
ENST00000696580.1:c.956C>G ENSP00000512733.1:p.Ala319Gly
ENST00000696581.1:c.*1017C>G ENSP00000512734.1:n.*1017C>G
ENST00000696582.1:c.*249C>G ENSP00000512735.1:n.*249C>G
ENST00000696583.1:c.1004C>G ENSP00000512736.1:p.Ala335Gly
ENST00000696584.1:n.1567C>G
ENST00000696585.1:n.1686C>G
ENST00000696586.1:n.1460C>G
ENST00000696587.1:c.923C>G ENSP00000512737.1:p.Ala308Gly
ENST00000696588.1:c.434C>G ENSP00000513251.1:p.Ala145Gly
ENST00000696589.1:n.818C>G
ENST00000696590.1:n.667C>G
ENST00000696591.1:n.392C>G
ENST00000696592.1:n.1922C>G
ENST00000696627.1:c.1043C>G ENSP00000512764.1:p.Ala348Gly
ENST00000696628.1:c.1043C>G ENSP00000512765.1:p.Ala348Gly
ENST00000369550.10:c.1043C>G MANE Select ENSP00000358563.5:p.Ala348Gly
ENST00000369550.9:c.1043C>G ENSP00000358563.5:p.Ala348Gly
ENST00000412124.5:c.301C>G
ENST00000426673.5:c.403C>G
ENST00000475966.1:n.532C>G
ENST00000620277.4:c.1043C>G ENSP00000478387.1:p.Ala348Gly
NM_001142463.2:c.1043C>G NP_001135935.1:p.Ala348Gly
NM_001288747.1:c.1043C>G NP_001275676.1:p.Ala348Gly
NM_001363.4:c.1043C>G NP_001354.1:p.Ala348Gly
NR_110021.1:n.1744C>G
NR_110022.1:n.1863C>G
NR_110023.1:n.1637C>G
NM_001363.5:c.1043C>G MANE Select NP_001354.1:p.Ala348Gly
NM_001142463.3:c.1043C>G NP_001135935.1:p.Ala348Gly
NR_110021.2:n.1622C>G
NR_110022.2:n.1741C>G
NR_110023.2:n.1515C>G
NM_001288747.2:c.1043C>G NP_001275676.1:p.Ala348Gly