Canonical Allele Identifier: CA414894858
Gene: DKC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773131C>G , CM000685.2:g.154773131C>G GRCh38
NC_000023.10:g.154001406C>G , CM000685.1:g.154001406C>G GRCh37
NC_000023.9:g.153654600C>G NCBI36
NG_009780.1:g.15376C>G , LRG_55:g.15376C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.917C>G ENSP00000400542.2:p.Ala306Gly
ENST00000426673.6:c.*420C>G ENSP00000407253.3:n.*420C>G
ENST00000484317.6:n.822C>G
ENST00000696575.1:c.1037C>G ENSP00000512730.1:p.Ala346Gly
ENST00000696577.1:c.1037C>G ENSP00000512731.1:p.Ala346Gly
ENST00000696578.1:c.916C>G ENSP00000512732.1:p.Leu306Val
ENST00000696579.1:n.1139C>G
ENST00000696580.1:c.950C>G ENSP00000512733.1:p.Ala317Gly
ENST00000696581.1:c.*1011C>G ENSP00000512734.1:n.*1011C>G
ENST00000696582.1:c.*243C>G ENSP00000512735.1:n.*243C>G
ENST00000696583.1:c.998C>G ENSP00000512736.1:p.Ala333Gly
ENST00000696584.1:n.1561C>G
ENST00000696585.1:n.1680C>G
ENST00000696586.1:n.1454C>G
ENST00000696587.1:c.917C>G ENSP00000512737.1:p.Ala306Gly
ENST00000696588.1:c.428C>G ENSP00000513251.1:p.Ala143Gly
ENST00000696589.1:n.812C>G
ENST00000696590.1:n.661C>G
ENST00000696591.1:n.386C>G
ENST00000696592.1:n.1916C>G
ENST00000696627.1:c.1037C>G ENSP00000512764.1:p.Ala346Gly
ENST00000696628.1:c.1037C>G ENSP00000512765.1:p.Ala346Gly
ENST00000369550.10:c.1037C>G MANE Select ENSP00000358563.5:p.Ala346Gly
ENST00000369550.9:c.1037C>G ENSP00000358563.5:p.Ala346Gly
ENST00000412124.5:c.295C>G
ENST00000426673.5:c.397C>G
ENST00000475966.1:n.526C>G
ENST00000620277.4:c.1037C>G ENSP00000478387.1:p.Ala346Gly
NM_001142463.2:c.1037C>G NP_001135935.1:p.Ala346Gly
NM_001288747.1:c.1037C>G NP_001275676.1:p.Ala346Gly
NM_001363.4:c.1037C>G NP_001354.1:p.Ala346Gly
NR_110021.1:n.1738C>G
NR_110022.1:n.1857C>G
NR_110023.1:n.1631C>G
NM_001363.5:c.1037C>G MANE Select NP_001354.1:p.Ala346Gly
NM_001142463.3:c.1037C>G NP_001135935.1:p.Ala346Gly
NR_110021.2:n.1616C>G
NR_110022.2:n.1735C>G
NR_110023.2:n.1509C>G
NM_001288747.2:c.1037C>G NP_001275676.1:p.Ala346Gly