Canonical Allele Identifier: CA414899987

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004540A>T (hg19) ; chrX:g.154776265A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776265A>T , CM000685.2:g.154776265A>T	GRCh38
NC_000023.10:g.154004540A>T , CM000685.1:g.154004540A>T	GRCh37
NC_000023.9:g.153657734A>T	NCBI36
NG_009780.1:g.18510A>T , LRG_55:g.18510A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*213A>T	ENSP00000400542.2:n.*213A>T
ENST00000426673.6:c.*859A>T	ENSP00000407253.3:n.*859A>T
ENST00000484317.6:n.1691A>T
ENST00000492372.2:n.355A>T
ENST00000696575.1:c.1402A>T	ENSP00000512730.1:p.Ser468Cys
ENST00000696577.1:c.1417A>T	ENSP00000512731.1:p.Ser473Cys
ENST00000696578.1:c.*369A>T	ENSP00000512732.1:n.*369A>T
ENST00000696579.1:n.2432A>T
ENST00000696580.1:c.1330A>T	ENSP00000512733.1:p.Ser444Cys
ENST00000696581.1:c.*1391A>T	ENSP00000512734.1:n.*1391A>T
ENST00000696582.1:c.*623A>T	ENSP00000512735.1:n.*623A>T
ENST00000696583.1:c.1378A>T	ENSP00000512736.1:p.Ser460Cys
ENST00000696584.1:n.1941A>T
ENST00000696585.1:n.2060A>T
ENST00000696586.1:n.1834A>T
ENST00000696587.1:c.1297A>T	ENSP00000512737.1:p.Ser433Cys
ENST00000696588.1:c.808A>T	ENSP00000513251.1:p.Ser270Cys
ENST00000696589.1:n.1192A>T
ENST00000696590.1:n.2443A>T
ENST00000696591.1:n.766A>T
ENST00000696592.1:n.3698A>T
ENST00000696627.1:c.*243A>T	ENSP00000512764.1:n.*243A>T
ENST00000696628.1:c.1417A>T	ENSP00000512765.1:p.Ser473Cys
ENST00000369550.10:c.1417A>T MANE Select	ENSP00000358563.5:p.Ser473Cys
ENST00000369550.9:c.1417A>T	ENSP00000358563.5:p.Ser473Cys
ENST00000426673.5:c.836A>T
ENST00000492372.1:n.234A>T
ENST00000620277.4:c.*643A>T	ENSP00000478387.1:n.*643A>T
NM_001142463.2:c.1402A>T	NP_001135935.1:p.Ser468Cys
NM_001288747.1:c.*643A>T	NP_001275676.1:n.*643A>T
NM_001363.4:c.1417A>T	NP_001354.1:p.Ser473Cys
NR_110021.1:n.2118A>T
NR_110022.1:n.2237A>T
NR_110023.1:n.2011A>T
NM_001363.5:c.1417A>T MANE Select	NP_001354.1:p.Ser473Cys
NM_001142463.3:c.1402A>T	NP_001135935.1:p.Ser468Cys
NR_110021.2:n.1996A>T
NR_110022.2:n.2115A>T
NR_110023.2:n.1889A>T
NM_001288747.2:c.*643A>T	NP_001275676.1:n.*643A>T