Canonical Allele Identifier: CA414891344

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997509G>A (hg19) ; chrX:g.154769234G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769234G>A , CM000685.2:g.154769234G>A	GRCh38
NC_000023.10:g.153997509G>A , CM000685.1:g.153997509G>A	GRCh37
NC_000023.9:g.153650703G>A	NCBI36
NG_009780.1:g.11479G>A , LRG_55:g.11479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.719G>A	ENSP00000400542.2:p.Ser240Asn
ENST00000426673.6:c.*222G>A	ENSP00000407253.3:n.*222G>A
ENST00000484317.6:n.624G>A
ENST00000696575.1:c.839G>A	ENSP00000512730.1:p.Ser280Asn
ENST00000696576.1:n.941G>A
ENST00000696577.1:c.839G>A	ENSP00000512731.1:p.Ser280Asn
ENST00000696578.1:c.839G>A	ENSP00000512732.1:p.Ser280Asn
ENST00000696579.1:n.941G>A
ENST00000696580.1:c.752G>A	ENSP00000512733.1:p.Ser251Asn
ENST00000696581.1:c.*813G>A	ENSP00000512734.1:n.*813G>A
ENST00000696582.1:c.*45G>A	ENSP00000512735.1:n.*45G>A
ENST00000696583.1:c.800G>A	ENSP00000512736.1:p.Ser267Asn
ENST00000696584.1:n.1363G>A
ENST00000696585.1:n.1482G>A
ENST00000696586.1:n.1256G>A
ENST00000696587.1:c.719G>A	ENSP00000512737.1:p.Ser240Asn
ENST00000696588.1:c.230G>A	ENSP00000513251.1:p.Ser77Asn
ENST00000696589.1:n.614G>A
ENST00000696590.1:n.463G>A
ENST00000696591.1:n.188G>A
ENST00000696627.1:c.839G>A	ENSP00000512764.1:p.Ser280Asn
ENST00000696628.1:c.839G>A	ENSP00000512765.1:p.Ser280Asn
ENST00000369550.10:c.839G>A MANE Select	ENSP00000358563.5:p.Ser280Asn
ENST00000369550.9:c.839G>A	ENSP00000358563.5:p.Ser280Asn
ENST00000412124.5:c.174-1525G>A
ENST00000413910.5:c.719G>A	ENSP00000400542.1:p.Ser240Asn
ENST00000426673.5:c.199G>A
ENST00000475966.1:n.328G>A
ENST00000484317.5:n.477G>A
ENST00000620277.4:c.839G>A	ENSP00000478387.1:p.Ser280Asn
NM_001142463.2:c.839G>A	NP_001135935.1:p.Ser280Asn
NM_001288747.1:c.839G>A	NP_001275676.1:p.Ser280Asn
NM_001363.4:c.839G>A	NP_001354.1:p.Ser280Asn
NR_110021.1:n.1540G>A
NR_110022.1:n.1659G>A
NR_110023.1:n.1433G>A
NM_001363.5:c.839G>A MANE Select	NP_001354.1:p.Ser280Asn
NM_001142463.3:c.839G>A	NP_001135935.1:p.Ser280Asn
NR_110021.2:n.1418G>A
NR_110022.2:n.1537G>A
NR_110023.2:n.1311G>A
NM_001288747.2:c.839G>A	NP_001275676.1:p.Ser280Asn