Canonical Allele Identifier: CA414900185

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004556A>G (hg19) ; chrX:g.154776281A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776281A>G , CM000685.2:g.154776281A>G	GRCh38
NC_000023.10:g.154004556A>G , CM000685.1:g.154004556A>G	GRCh37
NC_000023.9:g.153657750A>G	NCBI36
NG_009780.1:g.18526A>G , LRG_55:g.18526A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*229A>G	ENSP00000400542.2:n.*229A>G
ENST00000426673.6:c.*875A>G	ENSP00000407253.3:n.*875A>G
ENST00000484317.6:n.1707A>G
ENST00000492372.2:n.371A>G
ENST00000696575.1:c.1418A>G	ENSP00000512730.1:p.Lys473Arg
ENST00000696577.1:c.1433A>G	ENSP00000512731.1:p.Lys478Arg
ENST00000696578.1:c.*385A>G	ENSP00000512732.1:n.*385A>G
ENST00000696579.1:n.2448A>G
ENST00000696580.1:c.1346A>G	ENSP00000512733.1:p.Lys449Arg
ENST00000696581.1:c.*1407A>G	ENSP00000512734.1:n.*1407A>G
ENST00000696582.1:c.*639A>G	ENSP00000512735.1:n.*639A>G
ENST00000696583.1:c.1394A>G	ENSP00000512736.1:p.Lys465Arg
ENST00000696584.1:n.1957A>G
ENST00000696585.1:n.2076A>G
ENST00000696586.1:n.1850A>G
ENST00000696587.1:c.1313A>G	ENSP00000512737.1:p.Lys438Arg
ENST00000696588.1:c.824A>G	ENSP00000513251.1:p.Lys275Arg
ENST00000696589.1:n.1208A>G
ENST00000696590.1:n.2459A>G
ENST00000696591.1:n.782A>G
ENST00000696592.1:n.3714A>G
ENST00000696627.1:c.*259A>G	ENSP00000512764.1:n.*259A>G
ENST00000696628.1:c.1433A>G	ENSP00000512765.1:p.Lys478Arg
ENST00000369550.10:c.1433A>G MANE Select	ENSP00000358563.5:p.Lys478Arg
ENST00000369550.9:c.1433A>G	ENSP00000358563.5:p.Lys478Arg
ENST00000492372.1:n.250A>G
ENST00000620277.4:c.*659A>G	ENSP00000478387.1:n.*659A>G
NM_001142463.2:c.1418A>G	NP_001135935.1:p.Lys473Arg
NM_001288747.1:c.*659A>G	NP_001275676.1:n.*659A>G
NM_001363.4:c.1433A>G	NP_001354.1:p.Lys478Arg
NR_110021.1:n.2134A>G
NR_110022.1:n.2253A>G
NR_110023.1:n.2027A>G
NM_001363.5:c.1433A>G MANE Select	NP_001354.1:p.Lys478Arg
NM_001142463.3:c.1418A>G	NP_001135935.1:p.Lys473Arg
NR_110021.2:n.2012A>G
NR_110022.2:n.2131A>G
NR_110023.2:n.1905A>G
NM_001288747.2:c.*659A>G	NP_001275676.1:n.*659A>G