Canonical Allele Identifier: CA414899329

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004472A>G (hg19) ; chrX:g.154776197A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776197A>G , CM000685.2:g.154776197A>G	GRCh38
NC_000023.10:g.154004472A>G , CM000685.1:g.154004472A>G	GRCh37
NC_000023.9:g.153657666A>G	NCBI36
NG_009780.1:g.18442A>G , LRG_55:g.18442A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.*145A>G	ENSP00000400542.2:n.*145A>G
ENST00000426673.6:c.*791A>G	ENSP00000407253.3:n.*791A>G
ENST00000484317.6:n.1623A>G
ENST00000492372.2:n.287A>G
ENST00000696575.1:c.1334A>G	ENSP00000512730.1:p.Glu445Gly
ENST00000696577.1:c.1349A>G	ENSP00000512731.1:p.Glu450Gly
ENST00000696578.1:c.*301A>G	ENSP00000512732.1:n.*301A>G
ENST00000696579.1:n.2364A>G
ENST00000696580.1:c.1262A>G	ENSP00000512733.1:p.Glu421Gly
ENST00000696581.1:c.*1323A>G	ENSP00000512734.1:n.*1323A>G
ENST00000696582.1:c.*555A>G	ENSP00000512735.1:n.*555A>G
ENST00000696583.1:c.1310A>G	ENSP00000512736.1:p.Glu437Gly
ENST00000696584.1:n.1873A>G
ENST00000696585.1:n.1992A>G
ENST00000696586.1:n.1766A>G
ENST00000696587.1:c.1229A>G	ENSP00000512737.1:p.Glu410Gly
ENST00000696588.1:c.740A>G	ENSP00000513251.1:p.Glu247Gly
ENST00000696589.1:n.1124A>G
ENST00000696590.1:n.2375A>G
ENST00000696591.1:n.698A>G
ENST00000696592.1:n.3630A>G
ENST00000696627.1:c.*175A>G	ENSP00000512764.1:n.*175A>G
ENST00000696628.1:c.1349A>G	ENSP00000512765.1:p.Glu450Gly
ENST00000369550.10:c.1349A>G MANE Select	ENSP00000358563.5:p.Glu450Gly
ENST00000369550.9:c.1349A>G	ENSP00000358563.5:p.Glu450Gly
ENST00000412124.5:c.607A>G
ENST00000426673.5:c.768A>G
ENST00000475966.1:n.838A>G
ENST00000492372.1:n.166A>G
ENST00000620277.4:c.*575A>G	ENSP00000478387.1:n.*575A>G
NM_001142463.2:c.1334A>G	NP_001135935.1:p.Glu445Gly
NM_001288747.1:c.*575A>G	NP_001275676.1:n.*575A>G
NM_001363.4:c.1349A>G	NP_001354.1:p.Glu450Gly
NR_110021.1:n.2050A>G
NR_110022.1:n.2169A>G
NR_110023.1:n.1943A>G
NM_001363.5:c.1349A>G MANE Select	NP_001354.1:p.Glu450Gly
NM_001142463.3:c.1334A>G	NP_001135935.1:p.Glu445Gly
NR_110021.2:n.1928A>G
NR_110022.2:n.2047A>G
NR_110023.2:n.1821A>G
NM_001288747.2:c.*575A>G	NP_001275676.1:n.*575A>G