Canonical Allele Identifier: CA414891824

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997580A>C (hg19) ; chrX:g.154769305A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769305A>C , CM000685.2:g.154769305A>C	GRCh38
NC_000023.10:g.153997580A>C , CM000685.1:g.153997580A>C	GRCh37
NC_000023.9:g.153650774A>C	NCBI36
NG_009780.1:g.11550A>C , LRG_55:g.11550A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.790A>C	ENSP00000400542.2:p.Ser264Arg
ENST00000426673.6:c.*293A>C	ENSP00000407253.3:n.*293A>C
ENST00000484317.6:n.695A>C
ENST00000696575.1:c.910A>C	ENSP00000512730.1:p.Ser304Arg
ENST00000696576.1:n.1012A>C
ENST00000696577.1:c.910A>C	ENSP00000512731.1:p.Ser304Arg
ENST00000696578.1:c.910A>C	ENSP00000512732.1:p.Ser304Arg
ENST00000696579.1:n.1012A>C
ENST00000696580.1:c.823A>C	ENSP00000512733.1:p.Ser275Arg
ENST00000696581.1:c.*884A>C	ENSP00000512734.1:n.*884A>C
ENST00000696582.1:c.*116A>C	ENSP00000512735.1:n.*116A>C
ENST00000696583.1:c.871A>C	ENSP00000512736.1:p.Ser291Arg
ENST00000696584.1:n.1434A>C
ENST00000696585.1:n.1553A>C
ENST00000696586.1:n.1327A>C
ENST00000696587.1:c.790A>C	ENSP00000512737.1:p.Ser264Arg
ENST00000696588.1:c.301A>C	ENSP00000513251.1:p.Ser101Arg
ENST00000696589.1:n.685A>C
ENST00000696590.1:n.534A>C
ENST00000696591.1:n.259A>C
ENST00000696627.1:c.910A>C	ENSP00000512764.1:p.Ser304Arg
ENST00000696628.1:c.910A>C	ENSP00000512765.1:p.Ser304Arg
ENST00000369550.10:c.910A>C MANE Select	ENSP00000358563.5:p.Ser304Arg
ENST00000369550.9:c.910A>C	ENSP00000358563.5:p.Ser304Arg
ENST00000412124.5:c.174-1454A>C
ENST00000426673.5:c.270A>C
ENST00000475966.1:n.399A>C
ENST00000484317.5:n.548A>C
ENST00000620277.4:c.910A>C	ENSP00000478387.1:p.Ser304Arg
NM_001142463.2:c.910A>C	NP_001135935.1:p.Ser304Arg
NM_001288747.1:c.910A>C	NP_001275676.1:p.Ser304Arg
NM_001363.4:c.910A>C	NP_001354.1:p.Ser304Arg
NR_110021.1:n.1611A>C
NR_110022.1:n.1730A>C
NR_110023.1:n.1504A>C
NM_001363.5:c.910A>C MANE Select	NP_001354.1:p.Ser304Arg
NM_001142463.3:c.910A>C	NP_001135935.1:p.Ser304Arg
NR_110021.2:n.1489A>C
NR_110022.2:n.1608A>C
NR_110023.2:n.1382A>C
NM_001288747.2:c.910A>C	NP_001275676.1:p.Ser304Arg