Canonical Allele Identifier: CA519357899

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001486A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773211A>C , CM000685.2:g.154773211A>C	GRCh38
NC_000023.10:g.154001486A>C , CM000685.1:g.154001486A>C	GRCh37
NC_000023.9:g.153654680A>C	NCBI36
NG_009780.1:g.15456A>C , LRG_55:g.15456A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.997A>C	ENSP00000400542.2:p.Arg333=
ENST00000426673.6:c.*500A>C	ENSP00000407253.3:n.*500A>C
ENST00000484317.6:n.902A>C
ENST00000696575.1:c.1117A>C	ENSP00000512730.1:p.Arg373=
ENST00000696577.1:c.1117A>C	ENSP00000512731.1:p.Arg373=
ENST00000696578.1:c.*69A>C	ENSP00000512732.1:n.*69A>C
ENST00000696579.1:n.1219A>C
ENST00000696580.1:c.1030A>C	ENSP00000512733.1:p.Arg344=
ENST00000696581.1:c.*1091A>C	ENSP00000512734.1:n.*1091A>C
ENST00000696582.1:c.*323A>C	ENSP00000512735.1:n.*323A>C
ENST00000696583.1:c.1078A>C	ENSP00000512736.1:p.Arg360=
ENST00000696584.1:n.1641A>C
ENST00000696585.1:n.1760A>C
ENST00000696586.1:n.1534A>C
ENST00000696587.1:c.997A>C	ENSP00000512737.1:p.Arg333=
ENST00000696588.1:c.508A>C	ENSP00000513251.1:p.Arg170=
ENST00000696589.1:n.892A>C
ENST00000696590.1:n.741A>C
ENST00000696591.1:n.466A>C
ENST00000696592.1:n.1996A>C
ENST00000696627.1:c.1117A>C	ENSP00000512764.1:p.Arg373=
ENST00000696628.1:c.1117A>C	ENSP00000512765.1:p.Arg373=
ENST00000369550.10:c.1117A>C MANE Select	ENSP00000358563.5:p.Arg373=
ENST00000369550.9:c.1117A>C	ENSP00000358563.5:p.Arg373=
ENST00000412124.5:c.375A>C
ENST00000426673.5:c.477A>C
ENST00000475966.1:n.606A>C
ENST00000481062.1:n.68A>C
ENST00000620277.4:c.1117A>C	ENSP00000478387.1:p.Arg373=
NM_001142463.2:c.1117A>C	NP_001135935.1:p.Arg373=
NM_001288747.1:c.1117A>C	NP_001275676.1:p.Arg373=
NM_001363.4:c.1117A>C	NP_001354.1:p.Arg373=
NR_110021.1:n.1818A>C
NR_110022.1:n.1937A>C
NR_110023.1:n.1711A>C
NM_001363.5:c.1117A>C MANE Select	NP_001354.1:p.Arg373=
NM_001142463.3:c.1117A>C	NP_001135935.1:p.Arg373=
NR_110021.2:n.1696A>C
NR_110022.2:n.1815A>C
NR_110023.2:n.1589A>C
NM_001288747.2:c.1117A>C	NP_001275676.1:p.Arg373=