Canonical Allele Identifier: CA414891355

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997511T>G (hg19) ; chrX:g.154769236T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769236T>G , CM000685.2:g.154769236T>G	GRCh38
NC_000023.10:g.153997511T>G , CM000685.1:g.153997511T>G	GRCh37
NC_000023.9:g.153650705T>G	NCBI36
NG_009780.1:g.11481T>G , LRG_55:g.11481T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.721T>G	ENSP00000400542.2:p.Tyr241Asp
ENST00000426673.6:c.*224T>G	ENSP00000407253.3:n.*224T>G
ENST00000484317.6:n.626T>G
ENST00000696575.1:c.841T>G	ENSP00000512730.1:p.Tyr281Asp
ENST00000696576.1:n.943T>G
ENST00000696577.1:c.841T>G	ENSP00000512731.1:p.Tyr281Asp
ENST00000696578.1:c.841T>G	ENSP00000512732.1:p.Tyr281Asp
ENST00000696579.1:n.943T>G
ENST00000696580.1:c.754T>G	ENSP00000512733.1:p.Tyr252Asp
ENST00000696581.1:c.*815T>G	ENSP00000512734.1:n.*815T>G
ENST00000696582.1:c.*47T>G	ENSP00000512735.1:n.*47T>G
ENST00000696583.1:c.802T>G	ENSP00000512736.1:p.Tyr268Asp
ENST00000696584.1:n.1365T>G
ENST00000696585.1:n.1484T>G
ENST00000696586.1:n.1258T>G
ENST00000696587.1:c.721T>G	ENSP00000512737.1:p.Tyr241Asp
ENST00000696588.1:c.232T>G	ENSP00000513251.1:p.Tyr78Asp
ENST00000696589.1:n.616T>G
ENST00000696590.1:n.465T>G
ENST00000696591.1:n.190T>G
ENST00000696627.1:c.841T>G	ENSP00000512764.1:p.Tyr281Asp
ENST00000696628.1:c.841T>G	ENSP00000512765.1:p.Tyr281Asp
ENST00000369550.10:c.841T>G MANE Select	ENSP00000358563.5:p.Tyr281Asp
ENST00000369550.9:c.841T>G	ENSP00000358563.5:p.Tyr281Asp
ENST00000412124.5:c.174-1523T>G
ENST00000413910.5:c.721T>G	ENSP00000400542.1:p.Tyr241Asp
ENST00000426673.5:c.201T>G
ENST00000475966.1:n.330T>G
ENST00000484317.5:n.479T>G
ENST00000620277.4:c.841T>G	ENSP00000478387.1:p.Tyr281Asp
NM_001142463.2:c.841T>G	NP_001135935.1:p.Tyr281Asp
NM_001288747.1:c.841T>G	NP_001275676.1:p.Tyr281Asp
NM_001363.4:c.841T>G	NP_001354.1:p.Tyr281Asp
NR_110021.1:n.1542T>G
NR_110022.1:n.1661T>G
NR_110023.1:n.1435T>G
NM_001363.5:c.841T>G MANE Select	NP_001354.1:p.Tyr281Asp
NM_001142463.3:c.841T>G	NP_001135935.1:p.Tyr281Asp
NR_110021.2:n.1420T>G
NR_110022.2:n.1539T>G
NR_110023.2:n.1313T>G
NM_001288747.2:c.841T>G	NP_001275676.1:p.Tyr281Asp