Canonical Allele Identifier: CA414895242

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001447C>G (hg19) ; chrX:g.154773172C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773172C>G , CM000685.2:g.154773172C>G	GRCh38
NC_000023.10:g.154001447C>G , CM000685.1:g.154001447C>G	GRCh37
NC_000023.9:g.153654641C>G	NCBI36
NG_009780.1:g.15417C>G , LRG_55:g.15417C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.958C>G	ENSP00000400542.2:p.His320Asp
ENST00000426673.6:c.*461C>G	ENSP00000407253.3:n.*461C>G
ENST00000484317.6:n.863C>G
ENST00000696575.1:c.1078C>G	ENSP00000512730.1:p.His360Asp
ENST00000696577.1:c.1078C>G	ENSP00000512731.1:p.His360Asp
ENST00000696578.1:c.*30C>G	ENSP00000512732.1:n.*30C>G
ENST00000696579.1:n.1180C>G
ENST00000696580.1:c.991C>G	ENSP00000512733.1:p.His331Asp
ENST00000696581.1:c.*1052C>G	ENSP00000512734.1:n.*1052C>G
ENST00000696582.1:c.*284C>G	ENSP00000512735.1:n.*284C>G
ENST00000696583.1:c.1039C>G	ENSP00000512736.1:p.His347Asp
ENST00000696584.1:n.1602C>G
ENST00000696585.1:n.1721C>G
ENST00000696586.1:n.1495C>G
ENST00000696587.1:c.958C>G	ENSP00000512737.1:p.His320Asp
ENST00000696588.1:c.469C>G	ENSP00000513251.1:p.His157Asp
ENST00000696589.1:n.853C>G
ENST00000696590.1:n.702C>G
ENST00000696591.1:n.427C>G
ENST00000696592.1:n.1957C>G
ENST00000696627.1:c.1078C>G	ENSP00000512764.1:p.His360Asp
ENST00000696628.1:c.1078C>G	ENSP00000512765.1:p.His360Asp
ENST00000369550.10:c.1078C>G MANE Select	ENSP00000358563.5:p.His360Asp
ENST00000369550.9:c.1078C>G	ENSP00000358563.5:p.His360Asp
ENST00000412124.5:c.336C>G
ENST00000426673.5:c.438C>G
ENST00000475966.1:n.567C>G
ENST00000481062.1:n.29C>G
ENST00000620277.4:c.1078C>G	ENSP00000478387.1:p.His360Asp
NM_001142463.2:c.1078C>G	NP_001135935.1:p.His360Asp
NM_001288747.1:c.1078C>G	NP_001275676.1:p.His360Asp
NM_001363.4:c.1078C>G	NP_001354.1:p.His360Asp
NR_110021.1:n.1779C>G
NR_110022.1:n.1898C>G
NR_110023.1:n.1672C>G
NM_001363.5:c.1078C>G MANE Select	NP_001354.1:p.His360Asp
NM_001142463.3:c.1078C>G	NP_001135935.1:p.His360Asp
NR_110021.2:n.1657C>G
NR_110022.2:n.1776C>G
NR_110023.2:n.1550C>G
NM_001288747.2:c.1078C>G	NP_001275676.1:p.His360Asp