Canonical Allele Identifier: CA414891164

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997472G>A (hg19) ; chrX:g.154769197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769197G>A , CM000685.2:g.154769197G>A	GRCh38
NC_000023.10:g.153997472G>A , CM000685.1:g.153997472G>A	GRCh37
NC_000023.9:g.153650666G>A	NCBI36
NG_009780.1:g.11442G>A , LRG_55:g.11442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.682G>A	ENSP00000400542.2:p.Asp228Asn
ENST00000426673.6:c.*185G>A	ENSP00000407253.3:n.*185G>A
ENST00000484317.6:n.587G>A
ENST00000696575.1:c.802G>A	ENSP00000512730.1:p.Asp268Asn
ENST00000696576.1:n.904G>A
ENST00000696577.1:c.802G>A	ENSP00000512731.1:p.Asp268Asn
ENST00000696578.1:c.802G>A	ENSP00000512732.1:p.Asp268Asn
ENST00000696579.1:n.904G>A
ENST00000696580.1:c.715G>A	ENSP00000512733.1:p.Asp239Asn
ENST00000696581.1:c.*776G>A	ENSP00000512734.1:n.*776G>A
ENST00000696582.1:c.*8G>A	ENSP00000512735.1:n.*8G>A
ENST00000696583.1:c.772-9G>A	ENSP00000512736.1:n.772-9G>A
ENST00000696584.1:n.1326G>A
ENST00000696585.1:n.1445G>A
ENST00000696586.1:n.1219G>A
ENST00000696587.1:c.682G>A	ENSP00000512737.1:p.Asp228Asn
ENST00000696588.1:c.193G>A	ENSP00000513251.1:p.Asp65Asn
ENST00000696589.1:n.577G>A
ENST00000696590.1:n.426G>A
ENST00000696591.1:n.151G>A
ENST00000696627.1:c.802G>A	ENSP00000512764.1:p.Asp268Asn
ENST00000696628.1:c.802G>A	ENSP00000512765.1:p.Asp268Asn
ENST00000369550.10:c.802G>A MANE Select	ENSP00000358563.5:p.Asp268Asn
ENST00000369550.9:c.802G>A	ENSP00000358563.5:p.Asp268Asn
ENST00000412124.5:c.174-1562G>A
ENST00000413910.5:c.682G>A	ENSP00000400542.1:p.Asp228Asn
ENST00000426673.5:c.162G>A
ENST00000452771.5:c.695G>A	ENSP00000407325.1:n.695G>A
ENST00000475966.1:n.291G>A
ENST00000484317.5:n.440G>A
ENST00000620277.4:c.802G>A	ENSP00000478387.1:p.Asp268Asn
NM_001142463.2:c.802G>A	NP_001135935.1:p.Asp268Asn
NM_001288747.1:c.802G>A	NP_001275676.1:p.Asp268Asn
NM_001363.4:c.802G>A	NP_001354.1:p.Asp268Asn
NR_110021.1:n.1503G>A
NR_110022.1:n.1622G>A
NR_110023.1:n.1396G>A
NM_001363.5:c.802G>A MANE Select	NP_001354.1:p.Asp268Asn
NM_001142463.3:c.802G>A	NP_001135935.1:p.Asp268Asn
NR_110021.2:n.1381G>A
NR_110022.2:n.1500G>A
NR_110023.2:n.1274G>A
NM_001288747.2:c.802G>A	NP_001275676.1:p.Asp268Asn