Canonical Allele Identifier: CA414895142

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001436C>G (hg19) ; chrX:g.154773161C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773161C>G , CM000685.2:g.154773161C>G	GRCh38
NC_000023.10:g.154001436C>G , CM000685.1:g.154001436C>G	GRCh37
NC_000023.9:g.153654630C>G	NCBI36
NG_009780.1:g.15406C>G , LRG_55:g.15406C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.947C>G	ENSP00000400542.2:p.Ser316Cys
ENST00000426673.6:c.*450C>G	ENSP00000407253.3:n.*450C>G
ENST00000484317.6:n.852C>G
ENST00000696575.1:c.1067C>G	ENSP00000512730.1:p.Ser356Cys
ENST00000696577.1:c.1067C>G	ENSP00000512731.1:p.Ser356Cys
ENST00000696578.1:c.*19C>G	ENSP00000512732.1:n.*19C>G
ENST00000696579.1:n.1169C>G
ENST00000696580.1:c.980C>G	ENSP00000512733.1:p.Ser327Cys
ENST00000696581.1:c.*1041C>G	ENSP00000512734.1:n.*1041C>G
ENST00000696582.1:c.*273C>G	ENSP00000512735.1:n.*273C>G
ENST00000696583.1:c.1028C>G	ENSP00000512736.1:p.Ser343Cys
ENST00000696584.1:n.1591C>G
ENST00000696585.1:n.1710C>G
ENST00000696586.1:n.1484C>G
ENST00000696587.1:c.947C>G	ENSP00000512737.1:p.Ser316Cys
ENST00000696588.1:c.458C>G	ENSP00000513251.1:p.Ser153Cys
ENST00000696589.1:n.842C>G
ENST00000696590.1:n.691C>G
ENST00000696591.1:n.416C>G
ENST00000696592.1:n.1946C>G
ENST00000696627.1:c.1067C>G	ENSP00000512764.1:p.Ser356Cys
ENST00000696628.1:c.1067C>G	ENSP00000512765.1:p.Ser356Cys
ENST00000369550.10:c.1067C>G MANE Select	ENSP00000358563.5:p.Ser356Cys
ENST00000369550.9:c.1067C>G	ENSP00000358563.5:p.Ser356Cys
ENST00000412124.5:c.325C>G
ENST00000426673.5:c.427C>G
ENST00000475966.1:n.556C>G
ENST00000481062.1:n.18C>G
ENST00000620277.4:c.1067C>G	ENSP00000478387.1:p.Ser356Cys
NM_001142463.2:c.1067C>G	NP_001135935.1:p.Ser356Cys
NM_001288747.1:c.1067C>G	NP_001275676.1:p.Ser356Cys
NM_001363.4:c.1067C>G	NP_001354.1:p.Ser356Cys
NR_110021.1:n.1768C>G
NR_110022.1:n.1887C>G
NR_110023.1:n.1661C>G
NM_001363.5:c.1067C>G MANE Select	NP_001354.1:p.Ser356Cys
NM_001142463.3:c.1067C>G	NP_001135935.1:p.Ser356Cys
NR_110021.2:n.1646C>G
NR_110022.2:n.1765C>G
NR_110023.2:n.1539C>G
NM_001288747.2:c.1067C>G	NP_001275676.1:p.Ser356Cys