Canonical Allele Identifier: CA414895152

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001438A>T (hg19) ; chrX:g.154773163A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773163A>T , CM000685.2:g.154773163A>T	GRCh38
NC_000023.10:g.154001438A>T , CM000685.1:g.154001438A>T	GRCh37
NC_000023.9:g.153654632A>T	NCBI36
NG_009780.1:g.15408A>T , LRG_55:g.15408A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.949A>T	ENSP00000400542.2:p.Thr317Ser
ENST00000426673.6:c.*452A>T	ENSP00000407253.3:n.*452A>T
ENST00000484317.6:n.854A>T
ENST00000696575.1:c.1069A>T	ENSP00000512730.1:p.Thr357Ser
ENST00000696577.1:c.1069A>T	ENSP00000512731.1:p.Thr357Ser
ENST00000696578.1:c.*21A>T	ENSP00000512732.1:n.*21A>T
ENST00000696579.1:n.1171A>T
ENST00000696580.1:c.982A>T	ENSP00000512733.1:p.Thr328Ser
ENST00000696581.1:c.*1043A>T	ENSP00000512734.1:n.*1043A>T
ENST00000696582.1:c.*275A>T	ENSP00000512735.1:n.*275A>T
ENST00000696583.1:c.1030A>T	ENSP00000512736.1:p.Thr344Ser
ENST00000696584.1:n.1593A>T
ENST00000696585.1:n.1712A>T
ENST00000696586.1:n.1486A>T
ENST00000696587.1:c.949A>T	ENSP00000512737.1:p.Thr317Ser
ENST00000696588.1:c.460A>T	ENSP00000513251.1:p.Thr154Ser
ENST00000696589.1:n.844A>T
ENST00000696590.1:n.693A>T
ENST00000696591.1:n.418A>T
ENST00000696592.1:n.1948A>T
ENST00000696627.1:c.1069A>T	ENSP00000512764.1:p.Thr357Ser
ENST00000696628.1:c.1069A>T	ENSP00000512765.1:p.Thr357Ser
ENST00000369550.10:c.1069A>T MANE Select	ENSP00000358563.5:p.Thr357Ser
ENST00000369550.9:c.1069A>T	ENSP00000358563.5:p.Thr357Ser
ENST00000412124.5:c.327A>T
ENST00000426673.5:c.429A>T
ENST00000475966.1:n.558A>T
ENST00000481062.1:n.20A>T
ENST00000620277.4:c.1069A>T	ENSP00000478387.1:p.Thr357Ser
NM_001142463.2:c.1069A>T	NP_001135935.1:p.Thr357Ser
NM_001288747.1:c.1069A>T	NP_001275676.1:p.Thr357Ser
NM_001363.4:c.1069A>T	NP_001354.1:p.Thr357Ser
NR_110021.1:n.1770A>T
NR_110022.1:n.1889A>T
NR_110023.1:n.1663A>T
NM_001363.5:c.1069A>T MANE Select	NP_001354.1:p.Thr357Ser
NM_001142463.3:c.1069A>T	NP_001135935.1:p.Thr357Ser
NR_110021.2:n.1648A>T
NR_110022.2:n.1767A>T
NR_110023.2:n.1541A>T
NM_001288747.2:c.1069A>T	NP_001275676.1:p.Thr357Ser