Canonical Allele Identifier: CA414895995

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001495T>C (hg19) ; chrX:g.154773220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773220T>C , CM000685.2:g.154773220T>C	GRCh38
NC_000023.10:g.154001495T>C , CM000685.1:g.154001495T>C	GRCh37
NC_000023.9:g.153654689T>C	NCBI36
NG_009780.1:g.15465T>C , LRG_55:g.15465T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1006T>C	ENSP00000400542.2:p.Tyr336His
ENST00000426673.6:c.*509T>C	ENSP00000407253.3:n.*509T>C
ENST00000484317.6:n.911T>C
ENST00000696575.1:c.1126T>C	ENSP00000512730.1:p.Tyr376His
ENST00000696577.1:c.1126T>C	ENSP00000512731.1:p.Tyr376His
ENST00000696578.1:c.*78T>C	ENSP00000512732.1:n.*78T>C
ENST00000696579.1:n.1228T>C
ENST00000696580.1:c.1039T>C	ENSP00000512733.1:p.Tyr347His
ENST00000696581.1:c.*1100T>C	ENSP00000512734.1:n.*1100T>C
ENST00000696582.1:c.*332T>C	ENSP00000512735.1:n.*332T>C
ENST00000696583.1:c.1087T>C	ENSP00000512736.1:p.Tyr363His
ENST00000696584.1:n.1650T>C
ENST00000696585.1:n.1769T>C
ENST00000696586.1:n.1543T>C
ENST00000696587.1:c.1006T>C	ENSP00000512737.1:p.Tyr336His
ENST00000696588.1:c.517T>C	ENSP00000513251.1:p.Tyr173His
ENST00000696589.1:n.901T>C
ENST00000696590.1:n.750T>C
ENST00000696591.1:n.475T>C
ENST00000696592.1:n.2005T>C
ENST00000696627.1:c.1126T>C	ENSP00000512764.1:p.Tyr376His
ENST00000696628.1:c.1126T>C	ENSP00000512765.1:p.Tyr376His
ENST00000369550.10:c.1126T>C MANE Select	ENSP00000358563.5:p.Tyr376His
ENST00000369550.9:c.1126T>C	ENSP00000358563.5:p.Tyr376His
ENST00000412124.5:c.384T>C
ENST00000426673.5:c.486T>C
ENST00000475966.1:n.615T>C
ENST00000481062.1:n.77T>C
ENST00000620277.4:c.1126T>C	ENSP00000478387.1:p.Tyr376His
NM_001142463.2:c.1126T>C	NP_001135935.1:p.Tyr376His
NM_001288747.1:c.1126T>C	NP_001275676.1:p.Tyr376His
NM_001363.4:c.1126T>C	NP_001354.1:p.Tyr376His
NR_110021.1:n.1827T>C
NR_110022.1:n.1946T>C
NR_110023.1:n.1720T>C
NM_001363.5:c.1126T>C MANE Select	NP_001354.1:p.Tyr376His
NM_001142463.3:c.1126T>C	NP_001135935.1:p.Tyr376His
NR_110021.2:n.1705T>C
NR_110022.2:n.1824T>C
NR_110023.2:n.1598T>C
NM_001288747.2:c.1126T>C	NP_001275676.1:p.Tyr376His