Canonical Allele Identifier: CA519357846

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001452T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773177T>G , CM000685.2:g.154773177T>G	GRCh38
NC_000023.10:g.154001452T>G , CM000685.1:g.154001452T>G	GRCh37
NC_000023.9:g.153654646T>G	NCBI36
NG_009780.1:g.15422T>G , LRG_55:g.15422T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.963T>G	ENSP00000400542.2:p.Gly321=
ENST00000426673.6:c.*466T>G	ENSP00000407253.3:n.*466T>G
ENST00000484317.6:n.868T>G
ENST00000696575.1:c.1083T>G	ENSP00000512730.1:p.Gly361=
ENST00000696577.1:c.1083T>G	ENSP00000512731.1:p.Gly361=
ENST00000696578.1:c.*35T>G	ENSP00000512732.1:n.*35T>G
ENST00000696579.1:n.1185T>G
ENST00000696580.1:c.996T>G	ENSP00000512733.1:p.Gly332=
ENST00000696581.1:c.*1057T>G	ENSP00000512734.1:n.*1057T>G
ENST00000696582.1:c.*289T>G	ENSP00000512735.1:n.*289T>G
ENST00000696583.1:c.1044T>G	ENSP00000512736.1:p.Gly348=
ENST00000696584.1:n.1607T>G
ENST00000696585.1:n.1726T>G
ENST00000696586.1:n.1500T>G
ENST00000696587.1:c.963T>G	ENSP00000512737.1:p.Gly321=
ENST00000696588.1:c.474T>G	ENSP00000513251.1:p.Gly158=
ENST00000696589.1:n.858T>G
ENST00000696590.1:n.707T>G
ENST00000696591.1:n.432T>G
ENST00000696592.1:n.1962T>G
ENST00000696627.1:c.1083T>G	ENSP00000512764.1:p.Gly361=
ENST00000696628.1:c.1083T>G	ENSP00000512765.1:p.Gly361=
ENST00000369550.10:c.1083T>G MANE Select	ENSP00000358563.5:p.Gly361=
ENST00000369550.9:c.1083T>G	ENSP00000358563.5:p.Gly361=
ENST00000412124.5:c.341T>G
ENST00000426673.5:c.443T>G
ENST00000475966.1:n.572T>G
ENST00000481062.1:n.34T>G
ENST00000620277.4:c.1083T>G	ENSP00000478387.1:p.Gly361=
NM_001142463.2:c.1083T>G	NP_001135935.1:p.Gly361=
NM_001288747.1:c.1083T>G	NP_001275676.1:p.Gly361=
NM_001363.4:c.1083T>G	NP_001354.1:p.Gly361=
NR_110021.1:n.1784T>G
NR_110022.1:n.1903T>G
NR_110023.1:n.1677T>G
NM_001363.5:c.1083T>G MANE Select	NP_001354.1:p.Gly361=
NM_001142463.3:c.1083T>G	NP_001135935.1:p.Gly361=
NR_110021.2:n.1662T>G
NR_110022.2:n.1781T>G
NR_110023.2:n.1555T>G
NM_001288747.2:c.1083T>G	NP_001275676.1:p.Gly361=