Canonical Allele Identifier: CA414891822

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997579C>G (hg19) ; chrX:g.154769304C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769304C>G , CM000685.2:g.154769304C>G	GRCh38
NC_000023.10:g.153997579C>G , CM000685.1:g.153997579C>G	GRCh37
NC_000023.9:g.153650773C>G	NCBI36
NG_009780.1:g.11549C>G , LRG_55:g.11549C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.789C>G	ENSP00000400542.2:p.Asp263Glu
ENST00000426673.6:c.*292C>G	ENSP00000407253.3:n.*292C>G
ENST00000484317.6:n.694C>G
ENST00000696575.1:c.909C>G	ENSP00000512730.1:p.Asp303Glu
ENST00000696576.1:n.1011C>G
ENST00000696577.1:c.909C>G	ENSP00000512731.1:p.Asp303Glu
ENST00000696578.1:c.909C>G	ENSP00000512732.1:p.Asp303Glu
ENST00000696579.1:n.1011C>G
ENST00000696580.1:c.822C>G	ENSP00000512733.1:p.Asp274Glu
ENST00000696581.1:c.*883C>G	ENSP00000512734.1:n.*883C>G
ENST00000696582.1:c.*115C>G	ENSP00000512735.1:n.*115C>G
ENST00000696583.1:c.870C>G	ENSP00000512736.1:p.Asp290Glu
ENST00000696584.1:n.1433C>G
ENST00000696585.1:n.1552C>G
ENST00000696586.1:n.1326C>G
ENST00000696587.1:c.789C>G	ENSP00000512737.1:p.Asp263Glu
ENST00000696588.1:c.300C>G	ENSP00000513251.1:p.Asp100Glu
ENST00000696589.1:n.684C>G
ENST00000696590.1:n.533C>G
ENST00000696591.1:n.258C>G
ENST00000696627.1:c.909C>G	ENSP00000512764.1:p.Asp303Glu
ENST00000696628.1:c.909C>G	ENSP00000512765.1:p.Asp303Glu
ENST00000369550.10:c.909C>G MANE Select	ENSP00000358563.5:p.Asp303Glu
ENST00000369550.9:c.909C>G	ENSP00000358563.5:p.Asp303Glu
ENST00000412124.5:c.174-1455C>G
ENST00000426673.5:c.269C>G
ENST00000475966.1:n.398C>G
ENST00000484317.5:n.547C>G
ENST00000620277.4:c.909C>G	ENSP00000478387.1:p.Asp303Glu
NM_001142463.2:c.909C>G	NP_001135935.1:p.Asp303Glu
NM_001288747.1:c.909C>G	NP_001275676.1:p.Asp303Glu
NM_001363.4:c.909C>G	NP_001354.1:p.Asp303Glu
NR_110021.1:n.1610C>G
NR_110022.1:n.1729C>G
NR_110023.1:n.1503C>G
NM_001363.5:c.909C>G MANE Select	NP_001354.1:p.Asp303Glu
NM_001142463.3:c.909C>G	NP_001135935.1:p.Asp303Glu
NR_110021.2:n.1488C>G
NR_110022.2:n.1607C>G
NR_110023.2:n.1381C>G
NM_001288747.2:c.909C>G	NP_001275676.1:p.Asp303Glu