Canonical Allele Identifier: CA414896190

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001516G>C (hg19) ; chrX:g.154773241G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773241G>C , CM000685.2:g.154773241G>C	GRCh38
NC_000023.10:g.154001516G>C , CM000685.1:g.154001516G>C	GRCh37
NC_000023.9:g.153654710G>C	NCBI36
NG_009780.1:g.15486G>C , LRG_55:g.15486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1027G>C	ENSP00000400542.2:p.Gly343Arg
ENST00000426673.6:c.*530G>C	ENSP00000407253.3:n.*530G>C
ENST00000484317.6:n.932G>C
ENST00000696575.1:c.1147G>C	ENSP00000512730.1:p.Gly383Arg
ENST00000696577.1:c.1147G>C	ENSP00000512731.1:p.Gly383Arg
ENST00000696578.1:c.*99G>C	ENSP00000512732.1:n.*99G>C
ENST00000696579.1:n.1249G>C
ENST00000696580.1:c.1060G>C	ENSP00000512733.1:p.Gly354Arg
ENST00000696581.1:c.*1121G>C	ENSP00000512734.1:n.*1121G>C
ENST00000696582.1:c.*353G>C	ENSP00000512735.1:n.*353G>C
ENST00000696583.1:c.1108G>C	ENSP00000512736.1:p.Gly370Arg
ENST00000696584.1:n.1671G>C
ENST00000696585.1:n.1790G>C
ENST00000696586.1:n.1564G>C
ENST00000696587.1:c.1027G>C	ENSP00000512737.1:p.Gly343Arg
ENST00000696588.1:c.538G>C	ENSP00000513251.1:p.Gly180Arg
ENST00000696589.1:n.922G>C
ENST00000696590.1:n.771G>C
ENST00000696591.1:n.496G>C
ENST00000696592.1:n.2026G>C
ENST00000696627.1:c.1147G>C	ENSP00000512764.1:p.Gly383Arg
ENST00000696628.1:c.1147G>C	ENSP00000512765.1:p.Gly383Arg
ENST00000369550.10:c.1147G>C MANE Select	ENSP00000358563.5:p.Gly383Arg
ENST00000369550.9:c.1147G>C	ENSP00000358563.5:p.Gly383Arg
ENST00000412124.5:c.405G>C
ENST00000426673.5:c.507G>C
ENST00000475966.1:n.636G>C
ENST00000481062.1:n.98G>C
ENST00000620277.4:c.1147G>C	ENSP00000478387.1:p.Gly383Arg
NM_001142463.2:c.1147G>C	NP_001135935.1:p.Gly383Arg
NM_001288747.1:c.1147G>C	NP_001275676.1:p.Gly383Arg
NM_001363.4:c.1147G>C	NP_001354.1:p.Gly383Arg
NR_110021.1:n.1848G>C
NR_110022.1:n.1967G>C
NR_110023.1:n.1741G>C
NM_001363.5:c.1147G>C MANE Select	NP_001354.1:p.Gly383Arg
NM_001142463.3:c.1147G>C	NP_001135935.1:p.Gly383Arg
NR_110021.2:n.1726G>C
NR_110022.2:n.1845G>C
NR_110023.2:n.1619G>C
NM_001288747.2:c.1147G>C	NP_001275676.1:p.Gly383Arg