Canonical Allele Identifier: CA519357911

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001494T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773219T>A , CM000685.2:g.154773219T>A	GRCh38
NC_000023.10:g.154001494T>A , CM000685.1:g.154001494T>A	GRCh37
NC_000023.9:g.153654688T>A	NCBI36
NG_009780.1:g.15464T>A , LRG_55:g.15464T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1005T>A	ENSP00000400542.2:p.Thr335=
ENST00000426673.6:c.*508T>A	ENSP00000407253.3:n.*508T>A
ENST00000484317.6:n.910T>A
ENST00000696575.1:c.1125T>A	ENSP00000512730.1:p.Thr375=
ENST00000696577.1:c.1125T>A	ENSP00000512731.1:p.Thr375=
ENST00000696578.1:c.*77T>A	ENSP00000512732.1:n.*77T>A
ENST00000696579.1:n.1227T>A
ENST00000696580.1:c.1038T>A	ENSP00000512733.1:p.Thr346=
ENST00000696581.1:c.*1099T>A	ENSP00000512734.1:n.*1099T>A
ENST00000696582.1:c.*331T>A	ENSP00000512735.1:n.*331T>A
ENST00000696583.1:c.1086T>A	ENSP00000512736.1:p.Thr362=
ENST00000696584.1:n.1649T>A
ENST00000696585.1:n.1768T>A
ENST00000696586.1:n.1542T>A
ENST00000696587.1:c.1005T>A	ENSP00000512737.1:p.Thr335=
ENST00000696588.1:c.516T>A	ENSP00000513251.1:p.Thr172=
ENST00000696589.1:n.900T>A
ENST00000696590.1:n.749T>A
ENST00000696591.1:n.474T>A
ENST00000696592.1:n.2004T>A
ENST00000696627.1:c.1125T>A	ENSP00000512764.1:p.Thr375=
ENST00000696628.1:c.1125T>A	ENSP00000512765.1:p.Thr375=
ENST00000369550.10:c.1125T>A MANE Select	ENSP00000358563.5:p.Thr375=
ENST00000369550.9:c.1125T>A	ENSP00000358563.5:p.Thr375=
ENST00000412124.5:c.383T>A
ENST00000426673.5:c.485T>A
ENST00000475966.1:n.614T>A
ENST00000481062.1:n.76T>A
ENST00000620277.4:c.1125T>A	ENSP00000478387.1:p.Thr375=
NM_001142463.2:c.1125T>A	NP_001135935.1:p.Thr375=
NM_001288747.1:c.1125T>A	NP_001275676.1:p.Thr375=
NM_001363.4:c.1125T>A	NP_001354.1:p.Thr375=
NR_110021.1:n.1826T>A
NR_110022.1:n.1945T>A
NR_110023.1:n.1719T>A
NM_001363.5:c.1125T>A MANE Select	NP_001354.1:p.Thr375=
NM_001142463.3:c.1125T>A	NP_001135935.1:p.Thr375=
NR_110021.2:n.1704T>A
NR_110022.2:n.1823T>A
NR_110023.2:n.1597T>A
NM_001288747.2:c.1125T>A	NP_001275676.1:p.Thr375=