Canonical Allele Identifier: CA519363782

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004464G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776189G>T , CM000685.2:g.154776189G>T	GRCh38
NC_000023.10:g.154004464G>T , CM000685.1:g.154004464G>T	GRCh37
NC_000023.9:g.153657658G>T	NCBI36
NG_009780.1:g.18434G>T , LRG_55:g.18434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*137G>T	ENSP00000400542.2:n.*137G>T
ENST00000426673.6:c.*783G>T	ENSP00000407253.3:n.*783G>T
ENST00000484317.6:n.1615G>T
ENST00000492372.2:n.279G>T
ENST00000696575.1:c.1326G>T	ENSP00000512730.1:p.Arg442=
ENST00000696577.1:c.1341G>T	ENSP00000512731.1:p.Arg447=
ENST00000696578.1:c.*293G>T	ENSP00000512732.1:n.*293G>T
ENST00000696579.1:n.2356G>T
ENST00000696580.1:c.1254G>T	ENSP00000512733.1:p.Arg418=
ENST00000696581.1:c.*1315G>T	ENSP00000512734.1:n.*1315G>T
ENST00000696582.1:c.*547G>T	ENSP00000512735.1:n.*547G>T
ENST00000696583.1:c.1302G>T	ENSP00000512736.1:p.Arg434=
ENST00000696584.1:n.1865G>T
ENST00000696585.1:n.1984G>T
ENST00000696586.1:n.1758G>T
ENST00000696587.1:c.1221G>T	ENSP00000512737.1:p.Arg407=
ENST00000696588.1:c.732G>T	ENSP00000513251.1:p.Arg244=
ENST00000696589.1:n.1116G>T
ENST00000696590.1:n.2367G>T
ENST00000696591.1:n.690G>T
ENST00000696592.1:n.3622G>T
ENST00000696627.1:c.*167G>T	ENSP00000512764.1:n.*167G>T
ENST00000696628.1:c.1341G>T	ENSP00000512765.1:p.Arg447=
ENST00000369550.10:c.1341G>T MANE Select	ENSP00000358563.5:p.Arg447=
ENST00000369550.9:c.1341G>T	ENSP00000358563.5:p.Arg447=
ENST00000412124.5:c.599G>T
ENST00000426673.5:c.760G>T
ENST00000475966.1:n.830G>T
ENST00000492372.1:n.158G>T
ENST00000620277.4:c.*567G>T	ENSP00000478387.1:n.*567G>T
NM_001142463.2:c.1326G>T	NP_001135935.1:p.Arg442=
NM_001288747.1:c.*567G>T	NP_001275676.1:n.*567G>T
NM_001363.4:c.1341G>T	NP_001354.1:p.Arg447=
NR_110021.1:n.2042G>T
NR_110022.1:n.2161G>T
NR_110023.1:n.1935G>T
NM_001363.5:c.1341G>T MANE Select	NP_001354.1:p.Arg447=
NM_001142463.3:c.1326G>T	NP_001135935.1:p.Arg442=
NR_110021.2:n.1920G>T
NR_110022.2:n.2039G>T
NR_110023.2:n.1813G>T
NM_001288747.2:c.*567G>T	NP_001275676.1:n.*567G>T