Canonical Allele Identifier: CA343231

Gene: DKC1

Linked Data

• ClinVar Variation Id: 38944
• ClinVar RCV Id: RCV000032195 ; RCV000503491 ; RCV000434441 ; RCV001442049 ; RCV004018697
• dbSNP Id: rs199422241
• gnomAD v2: X-153991099-C-G
• gnomAD v3: X-154762824-C-G
• gnomAD v4: X-154762824-C-G
• MyVariant Identifiers: chrX:g.153991099C>G (hg19) ; chrX:g.154762824C>G (hg38)
• PubMed: PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154762824C>G , CM000685.2:g.154762824C>G	GRCh38
NC_000023.10:g.153991099C>G , CM000685.1:g.153991099C>G	GRCh37
NC_000023.9:g.153644293C>G	NCBI36
NG_009780.1:g.5069C>G , LRG_55:g.5069C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.-142C>G	ENSP00000400542.2:n.-142C>G
ENST00000426673.6:c.-142C>G	ENSP00000407253.3:n.-142C>G
ENST00000369550.9:c.-142C>G	ENSP00000358563.5:n.-142C>G
ENST00000620277.4:c.-142C>G	ENSP00000478387.1:n.-142C>G
NM_001142463.2:c.-142C>G	NP_001135935.1:n.-142C>G
NM_001288747.1:c.-142C>G	NP_001275676.1:n.-142C>G
NM_001363.4:c.-142C>G	NP_001354.1:n.-142C>G
NR_110021.1:n.83C>G
NR_110022.1:n.83C>G
NR_110023.1:n.83C>G