Canonical Allele Identifier: CA414895043

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001426G>A (hg19) ; chrX:g.154773151G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773151G>A , CM000685.2:g.154773151G>A	GRCh38
NC_000023.10:g.154001426G>A , CM000685.1:g.154001426G>A	GRCh37
NC_000023.9:g.153654620G>A	NCBI36
NG_009780.1:g.15396G>A , LRG_55:g.15396G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.937G>A	ENSP00000400542.2:p.Ala313Thr
ENST00000426673.6:c.*440G>A	ENSP00000407253.3:n.*440G>A
ENST00000484317.6:n.842G>A
ENST00000696575.1:c.1057G>A	ENSP00000512730.1:p.Ala353Thr
ENST00000696577.1:c.1057G>A	ENSP00000512731.1:p.Ala353Thr
ENST00000696578.1:c.*9G>A	ENSP00000512732.1:n.*9G>A
ENST00000696579.1:n.1159G>A
ENST00000696580.1:c.970G>A	ENSP00000512733.1:p.Ala324Thr
ENST00000696581.1:c.*1031G>A	ENSP00000512734.1:n.*1031G>A
ENST00000696582.1:c.*263G>A	ENSP00000512735.1:n.*263G>A
ENST00000696583.1:c.1018G>A	ENSP00000512736.1:p.Ala340Thr
ENST00000696584.1:n.1581G>A
ENST00000696585.1:n.1700G>A
ENST00000696586.1:n.1474G>A
ENST00000696587.1:c.937G>A	ENSP00000512737.1:p.Ala313Thr
ENST00000696588.1:c.448G>A	ENSP00000513251.1:p.Ala150Thr
ENST00000696589.1:n.832G>A
ENST00000696590.1:n.681G>A
ENST00000696591.1:n.406G>A
ENST00000696592.1:n.1936G>A
ENST00000696627.1:c.1057G>A	ENSP00000512764.1:p.Ala353Thr
ENST00000696628.1:c.1057G>A	ENSP00000512765.1:p.Ala353Thr
ENST00000369550.10:c.1057G>A MANE Select	ENSP00000358563.5:p.Ala353Thr
ENST00000369550.9:c.1057G>A	ENSP00000358563.5:p.Ala353Thr
ENST00000412124.5:c.315G>A
ENST00000426673.5:c.417G>A
ENST00000475966.1:n.546G>A
ENST00000481062.1:n.8G>A
ENST00000620277.4:c.1057G>A	ENSP00000478387.1:p.Ala353Thr
NM_001142463.2:c.1057G>A	NP_001135935.1:p.Ala353Thr
NM_001288747.1:c.1057G>A	NP_001275676.1:p.Ala353Thr
NM_001363.4:c.1057G>A	NP_001354.1:p.Ala353Thr
NR_110021.1:n.1758G>A
NR_110022.1:n.1877G>A
NR_110023.1:n.1651G>A
NM_001363.5:c.1057G>A MANE Select	NP_001354.1:p.Ala353Thr
NM_001142463.3:c.1057G>A	NP_001135935.1:p.Ala353Thr
NR_110021.2:n.1636G>A
NR_110022.2:n.1755G>A
NR_110023.2:n.1529G>A
NM_001288747.2:c.1057G>A	NP_001275676.1:p.Ala353Thr