Canonical Allele Identifier: CA414889411

Gene: DKC1

Linked Data

• ClinVar Variation Id: 1444615
• ClinVar RCV Id: RCV001982509
• dbSNP Id: rs2148509751
• MyVariant Identifiers: chrX:g.153994230T>C (hg19) ; chrX:g.154765955T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765955T>C , CM000685.2:g.154765955T>C	GRCh38
NC_000023.10:g.153994230T>C , CM000685.1:g.153994230T>C	GRCh37
NC_000023.9:g.153647424T>C	NCBI36
NG_009780.1:g.8200T>C , LRG_55:g.8200T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.220T>C	ENSP00000400542.2:p.Cys74Arg
ENST00000426673.6:c.220T>C	ENSP00000407253.3:p.Cys74Arg
ENST00000696575.1:c.220T>C	ENSP00000512730.1:p.Cys74Arg
ENST00000696576.1:n.322T>C
ENST00000696577.1:c.220T>C	ENSP00000512731.1:p.Cys74Arg
ENST00000696578.1:c.220T>C	ENSP00000512732.1:p.Cys74Arg
ENST00000696579.1:n.322T>C
ENST00000696580.1:c.133T>C	ENSP00000512733.1:p.Cys45Arg
ENST00000696581.1:c.*194T>C	ENSP00000512734.1:n.*194T>C
ENST00000696582.1:c.220T>C	ENSP00000512735.1:p.Cys74Arg
ENST00000696583.1:c.220T>C	ENSP00000512736.1:p.Cys74Arg
ENST00000696584.1:n.744T>C
ENST00000696585.1:n.267T>C
ENST00000696586.1:n.267T>C
ENST00000696587.1:c.220T>C	ENSP00000512737.1:p.Cys74Arg
ENST00000696588.1:c.-390T>C	ENSP00000513251.1:n.-390T>C
ENST00000696627.1:c.220T>C	ENSP00000512764.1:p.Cys74Arg
ENST00000696628.1:c.220T>C	ENSP00000512765.1:p.Cys74Arg
ENST00000369550.10:c.220T>C MANE Select	ENSP00000358563.5:p.Cys74Arg
ENST00000369550.9:c.220T>C	ENSP00000358563.5:p.Cys74Arg
ENST00000413910.5:c.220T>C	ENSP00000400542.1:p.Cys74Arg
ENST00000437719.5:c.176T>C
ENST00000452771.5:c.178T>C	ENSP00000407325.1:p.Cys60Arg
ENST00000473552.1:n.273T>C
ENST00000620277.4:c.220T>C	ENSP00000478387.1:p.Cys74Arg
NM_001142463.2:c.220T>C	NP_001135935.1:p.Cys74Arg
NM_001288747.1:c.220T>C	NP_001275676.1:p.Cys74Arg
NM_001363.4:c.220T>C	NP_001354.1:p.Cys74Arg
NR_110021.1:n.921T>C
NR_110022.1:n.444T>C
NR_110023.1:n.444T>C
NM_001363.5:c.220T>C MANE Select	NP_001354.1:p.Cys74Arg
NM_001142463.3:c.220T>C	NP_001135935.1:p.Cys74Arg
NR_110021.2:n.799T>C
NR_110022.2:n.322T>C
NR_110023.2:n.322T>C
NM_001288747.2:c.220T>C	NP_001275676.1:p.Cys74Arg