Canonical Allele Identifier: CA414896011

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001497C>G (hg19) ; chrX:g.154773222C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773222C>G , CM000685.2:g.154773222C>G	GRCh38
NC_000023.10:g.154001497C>G , CM000685.1:g.154001497C>G	GRCh37
NC_000023.9:g.153654691C>G	NCBI36
NG_009780.1:g.15467C>G , LRG_55:g.15467C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1008C>G	ENSP00000400542.2:p.Tyr336Ter
ENST00000426673.6:c.*511C>G	ENSP00000407253.3:n.*511C>G
ENST00000484317.6:n.913C>G
ENST00000696575.1:c.1128C>G	ENSP00000512730.1:p.Tyr376Ter
ENST00000696577.1:c.1128C>G	ENSP00000512731.1:p.Tyr376Ter
ENST00000696578.1:c.*80C>G	ENSP00000512732.1:n.*80C>G
ENST00000696579.1:n.1230C>G
ENST00000696580.1:c.1041C>G	ENSP00000512733.1:p.Tyr347Ter
ENST00000696581.1:c.*1102C>G	ENSP00000512734.1:n.*1102C>G
ENST00000696582.1:c.*334C>G	ENSP00000512735.1:n.*334C>G
ENST00000696583.1:c.1089C>G	ENSP00000512736.1:p.Tyr363Ter
ENST00000696584.1:n.1652C>G
ENST00000696585.1:n.1771C>G
ENST00000696586.1:n.1545C>G
ENST00000696587.1:c.1008C>G	ENSP00000512737.1:p.Tyr336Ter
ENST00000696588.1:c.519C>G	ENSP00000513251.1:p.Tyr173Ter
ENST00000696589.1:n.903C>G
ENST00000696590.1:n.752C>G
ENST00000696591.1:n.477C>G
ENST00000696592.1:n.2007C>G
ENST00000696627.1:c.1128C>G	ENSP00000512764.1:p.Tyr376Ter
ENST00000696628.1:c.1128C>G	ENSP00000512765.1:p.Tyr376Ter
ENST00000369550.10:c.1128C>G MANE Select	ENSP00000358563.5:p.Tyr376Ter
ENST00000369550.9:c.1128C>G	ENSP00000358563.5:p.Tyr376Ter
ENST00000412124.5:c.386C>G
ENST00000426673.5:c.488C>G
ENST00000475966.1:n.617C>G
ENST00000481062.1:n.79C>G
ENST00000620277.4:c.1128C>G	ENSP00000478387.1:p.Tyr376Ter
NM_001142463.2:c.1128C>G	NP_001135935.1:p.Tyr376Ter
NM_001288747.1:c.1128C>G	NP_001275676.1:p.Tyr376Ter
NM_001363.4:c.1128C>G	NP_001354.1:p.Tyr376Ter
NR_110021.1:n.1829C>G
NR_110022.1:n.1948C>G
NR_110023.1:n.1722C>G
NM_001363.5:c.1128C>G MANE Select	NP_001354.1:p.Tyr376Ter
NM_001142463.3:c.1128C>G	NP_001135935.1:p.Tyr376Ter
NR_110021.2:n.1707C>G
NR_110022.2:n.1826C>G
NR_110023.2:n.1600C>G
NM_001288747.2:c.1128C>G	NP_001275676.1:p.Tyr376Ter