Canonical Allele Identifier: CA337308537

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154766284G>A , CM000685.2:g.154766284G>A	GRCh38
NC_000023.10:g.153994559G>A , CM000685.1:g.153994559G>A	GRCh37
NC_000023.9:g.153647753G>A	NCBI36
NG_009780.1:g.8529G>A , LRG_55:g.8529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.332G>A	ENSP00000400542.2:p.Arg111Gln
ENST00000426673.6:c.332G>A	ENSP00000407253.3:p.Arg111Gln
ENST00000696575.1:c.332G>A	ENSP00000512730.1:p.Arg111Gln
ENST00000696576.1:n.434G>A
ENST00000696577.1:c.332G>A	ENSP00000512731.1:p.Arg111Gln
ENST00000696578.1:c.332G>A	ENSP00000512732.1:p.Arg111Gln
ENST00000696579.1:n.434G>A
ENST00000696580.1:c.245G>A	ENSP00000512733.1:p.Arg82Gln
ENST00000696581.1:c.*306G>A	ENSP00000512734.1:n.*306G>A
ENST00000696582.1:c.332G>A	ENSP00000512735.1:p.Arg111Gln
ENST00000696583.1:c.332G>A	ENSP00000512736.1:p.Arg111Gln
ENST00000696584.1:n.856G>A
ENST00000696585.1:n.379G>A
ENST00000696586.1:n.379G>A
ENST00000696587.1:c.332G>A	ENSP00000512737.1:p.Arg111Gln
ENST00000696588.1:c.-278G>A	ENSP00000513251.1:n.-278G>A
ENST00000696627.1:c.332G>A	ENSP00000512764.1:p.Arg111Gln
ENST00000696628.1:c.332G>A	ENSP00000512765.1:p.Arg111Gln
ENST00000369550.10:c.332G>A MANE Select	ENSP00000358563.5:p.Arg111Gln
ENST00000369550.9:c.332G>A	ENSP00000358563.5:p.Arg111Gln
ENST00000413910.5:c.332G>A	ENSP00000400542.1:p.Arg111Gln
ENST00000437719.5:c.288G>A
ENST00000452771.5:c.290G>A	ENSP00000407325.1:p.Arg97Gln
ENST00000473552.1:n.385G>A
ENST00000620277.4:c.332G>A	ENSP00000478387.1:p.Arg111Gln
NM_001142463.2:c.332G>A	NP_001135935.1:p.Arg111Gln
NM_001288747.1:c.332G>A	NP_001275676.1:p.Arg111Gln
NM_001363.4:c.332G>A	NP_001354.1:p.Arg111Gln
NR_110021.1:n.1033G>A
NR_110022.1:n.556G>A
NR_110023.1:n.556G>A
NM_001363.5:c.332G>A MANE Select	NP_001354.1:p.Arg111Gln
NM_001142463.3:c.332G>A	NP_001135935.1:p.Arg111Gln
NR_110021.2:n.911G>A
NR_110022.2:n.434G>A
NR_110023.2:n.434G>A
NM_001288747.2:c.332G>A	NP_001275676.1:p.Arg111Gln