Canonical Allele Identifier: CA414891170

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997473A>G (hg19) ; chrX:g.154769198A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769198A>G , CM000685.2:g.154769198A>G	GRCh38
NC_000023.10:g.153997473A>G , CM000685.1:g.153997473A>G	GRCh37
NC_000023.9:g.153650667A>G	NCBI36
NG_009780.1:g.11443A>G , LRG_55:g.11443A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.683A>G	ENSP00000400542.2:p.Asp228Gly
ENST00000426673.6:c.*186A>G	ENSP00000407253.3:n.*186A>G
ENST00000484317.6:n.588A>G
ENST00000696575.1:c.803A>G	ENSP00000512730.1:p.Asp268Gly
ENST00000696576.1:n.905A>G
ENST00000696577.1:c.803A>G	ENSP00000512731.1:p.Asp268Gly
ENST00000696578.1:c.803A>G	ENSP00000512732.1:p.Asp268Gly
ENST00000696579.1:n.905A>G
ENST00000696580.1:c.716A>G	ENSP00000512733.1:p.Asp239Gly
ENST00000696581.1:c.*777A>G	ENSP00000512734.1:n.*777A>G
ENST00000696582.1:c.*9A>G	ENSP00000512735.1:n.*9A>G
ENST00000696583.1:c.772-8A>G	ENSP00000512736.1:n.772-8A>G
ENST00000696584.1:n.1327A>G
ENST00000696585.1:n.1446A>G
ENST00000696586.1:n.1220A>G
ENST00000696587.1:c.683A>G	ENSP00000512737.1:p.Asp228Gly
ENST00000696588.1:c.194A>G	ENSP00000513251.1:p.Asp65Gly
ENST00000696589.1:n.578A>G
ENST00000696590.1:n.427A>G
ENST00000696591.1:n.152A>G
ENST00000696627.1:c.803A>G	ENSP00000512764.1:p.Asp268Gly
ENST00000696628.1:c.803A>G	ENSP00000512765.1:p.Asp268Gly
ENST00000369550.10:c.803A>G MANE Select	ENSP00000358563.5:p.Asp268Gly
ENST00000369550.9:c.803A>G	ENSP00000358563.5:p.Asp268Gly
ENST00000412124.5:c.174-1561A>G
ENST00000413910.5:c.683A>G	ENSP00000400542.1:p.Asp228Gly
ENST00000426673.5:c.163A>G
ENST00000452771.5:c.696A>G	ENSP00000407325.1:n.696A>G
ENST00000475966.1:n.292A>G
ENST00000484317.5:n.441A>G
ENST00000620277.4:c.803A>G	ENSP00000478387.1:p.Asp268Gly
NM_001142463.2:c.803A>G	NP_001135935.1:p.Asp268Gly
NM_001288747.1:c.803A>G	NP_001275676.1:p.Asp268Gly
NM_001363.4:c.803A>G	NP_001354.1:p.Asp268Gly
NR_110021.1:n.1504A>G
NR_110022.1:n.1623A>G
NR_110023.1:n.1397A>G
NM_001363.5:c.803A>G MANE Select	NP_001354.1:p.Asp268Gly
NM_001142463.3:c.803A>G	NP_001135935.1:p.Asp268Gly
NR_110021.2:n.1382A>G
NR_110022.2:n.1501A>G
NR_110023.2:n.1275A>G
NM_001288747.2:c.803A>G	NP_001275676.1:p.Asp268Gly