Canonical Allele Identifier: CA414900196

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004558G>A (hg19) ; chrX:g.154776283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776283G>A , CM000685.2:g.154776283G>A	GRCh38
NC_000023.10:g.154004558G>A , CM000685.1:g.154004558G>A	GRCh37
NC_000023.9:g.153657752G>A	NCBI36
NG_009780.1:g.18528G>A , LRG_55:g.18528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*231G>A	ENSP00000400542.2:n.*231G>A
ENST00000426673.6:c.*877G>A	ENSP00000407253.3:n.*877G>A
ENST00000484317.6:n.1709G>A
ENST00000492372.2:n.373G>A
ENST00000696575.1:c.1420G>A	ENSP00000512730.1:p.Ala474Thr
ENST00000696577.1:c.1435G>A	ENSP00000512731.1:p.Ala479Thr
ENST00000696578.1:c.*387G>A	ENSP00000512732.1:n.*387G>A
ENST00000696579.1:n.2450G>A
ENST00000696580.1:c.1348G>A	ENSP00000512733.1:p.Ala450Thr
ENST00000696581.1:c.*1409G>A	ENSP00000512734.1:n.*1409G>A
ENST00000696582.1:c.*641G>A	ENSP00000512735.1:n.*641G>A
ENST00000696583.1:c.1396G>A	ENSP00000512736.1:p.Ala466Thr
ENST00000696584.1:n.1959G>A
ENST00000696585.1:n.2078G>A
ENST00000696586.1:n.1852G>A
ENST00000696587.1:c.1315G>A	ENSP00000512737.1:p.Ala439Thr
ENST00000696588.1:c.826G>A	ENSP00000513251.1:p.Ala276Thr
ENST00000696589.1:n.1210G>A
ENST00000696590.1:n.2461G>A
ENST00000696591.1:n.784G>A
ENST00000696592.1:n.3716G>A
ENST00000696627.1:c.*261G>A	ENSP00000512764.1:n.*261G>A
ENST00000696628.1:c.1435G>A	ENSP00000512765.1:p.Ala479Thr
ENST00000369550.10:c.1435G>A MANE Select	ENSP00000358563.5:p.Ala479Thr
ENST00000369550.9:c.1435G>A	ENSP00000358563.5:p.Ala479Thr
ENST00000492372.1:n.252G>A
ENST00000620277.4:c.*661G>A	ENSP00000478387.1:n.*661G>A
NM_001142463.2:c.1420G>A	NP_001135935.1:p.Ala474Thr
NM_001288747.1:c.*661G>A	NP_001275676.1:n.*661G>A
NM_001363.4:c.1435G>A	NP_001354.1:p.Ala479Thr
NR_110021.1:n.2136G>A
NR_110022.1:n.2255G>A
NR_110023.1:n.2029G>A
NM_001363.5:c.1435G>A MANE Select	NP_001354.1:p.Ala479Thr
NM_001142463.3:c.1420G>A	NP_001135935.1:p.Ala474Thr
NR_110021.2:n.2014G>A
NR_110022.2:n.2133G>A
NR_110023.2:n.1907G>A
NM_001288747.2:c.*661G>A	NP_001275676.1:n.*661G>A