Canonical Allele Identifier: CA414891277

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997497A>C (hg19) ; chrX:g.154769222A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769222A>C , CM000685.2:g.154769222A>C	GRCh38
NC_000023.10:g.153997497A>C , CM000685.1:g.153997497A>C	GRCh37
NC_000023.9:g.153650691A>C	NCBI36
NG_009780.1:g.11467A>C , LRG_55:g.11467A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.707A>C	ENSP00000400542.2:p.His236Pro
ENST00000426673.6:c.*210A>C	ENSP00000407253.3:n.*210A>C
ENST00000484317.6:n.612A>C
ENST00000696575.1:c.827A>C	ENSP00000512730.1:p.His276Pro
ENST00000696576.1:n.929A>C
ENST00000696577.1:c.827A>C	ENSP00000512731.1:p.His276Pro
ENST00000696578.1:c.827A>C	ENSP00000512732.1:p.His276Pro
ENST00000696579.1:n.929A>C
ENST00000696580.1:c.740A>C	ENSP00000512733.1:p.His247Pro
ENST00000696581.1:c.*801A>C	ENSP00000512734.1:n.*801A>C
ENST00000696582.1:c.*33A>C	ENSP00000512735.1:n.*33A>C
ENST00000696583.1:c.788A>C	ENSP00000512736.1:p.His263Pro
ENST00000696584.1:n.1351A>C
ENST00000696585.1:n.1470A>C
ENST00000696586.1:n.1244A>C
ENST00000696587.1:c.707A>C	ENSP00000512737.1:p.His236Pro
ENST00000696588.1:c.218A>C	ENSP00000513251.1:p.His73Pro
ENST00000696589.1:n.602A>C
ENST00000696590.1:n.451A>C
ENST00000696591.1:n.176A>C
ENST00000696627.1:c.827A>C	ENSP00000512764.1:p.His276Pro
ENST00000696628.1:c.827A>C	ENSP00000512765.1:p.His276Pro
ENST00000369550.10:c.827A>C MANE Select	ENSP00000358563.5:p.His276Pro
ENST00000369550.9:c.827A>C	ENSP00000358563.5:p.His276Pro
ENST00000412124.5:c.174-1537A>C
ENST00000413910.5:c.707A>C	ENSP00000400542.1:p.His236Pro
ENST00000426673.5:c.187A>C
ENST00000475966.1:n.316A>C
ENST00000484317.5:n.465A>C
ENST00000620277.4:c.827A>C	ENSP00000478387.1:p.His276Pro
NM_001142463.2:c.827A>C	NP_001135935.1:p.His276Pro
NM_001288747.1:c.827A>C	NP_001275676.1:p.His276Pro
NM_001363.4:c.827A>C	NP_001354.1:p.His276Pro
NR_110021.1:n.1528A>C
NR_110022.1:n.1647A>C
NR_110023.1:n.1421A>C
NM_001363.5:c.827A>C MANE Select	NP_001354.1:p.His276Pro
NM_001142463.3:c.827A>C	NP_001135935.1:p.His276Pro
NR_110021.2:n.1406A>C
NR_110022.2:n.1525A>C
NR_110023.2:n.1299A>C
NM_001288747.2:c.827A>C	NP_001275676.1:p.His276Pro