Canonical Allele Identifier: CA264767

Gene: DKC1

Linked Data

• ClinVar Variation Id: 11592
• ClinVar RCV Id: RCV000012350 ; RCV000055630 ; RCV000479038 ; RCV001857333
• dbSNP Id: rs121912305
• MyVariant Identifiers: chrX:g.153994588A>G (hg19) ; chrX:g.154766313A>G (hg38)
• PubMed: PMID:7607282 ; PMID:10583221 ; PMID:19734544 ; PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154766313A>G , CM000685.2:g.154766313A>G	GRCh38
NC_000023.10:g.153994588A>G , CM000685.1:g.153994588A>G	GRCh37
NC_000023.9:g.153647782A>G	NCBI36
NG_009780.1:g.8558A>G , LRG_55:g.8558A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.361A>G	ENSP00000400542.2:p.Ser121Gly
ENST00000426673.6:c.361A>G	ENSP00000407253.3:p.Ser121Gly
ENST00000696575.1:c.361A>G	ENSP00000512730.1:p.Ser121Gly
ENST00000696576.1:n.463A>G
ENST00000696577.1:c.361A>G	ENSP00000512731.1:p.Ser121Gly
ENST00000696578.1:c.361A>G	ENSP00000512732.1:p.Ser121Gly
ENST00000696579.1:n.463A>G
ENST00000696580.1:c.274A>G	ENSP00000512733.1:p.Ser92Gly
ENST00000696581.1:c.*335A>G	ENSP00000512734.1:n.*335A>G
ENST00000696582.1:c.361A>G	ENSP00000512735.1:p.Ser121Gly
ENST00000696583.1:c.361A>G	ENSP00000512736.1:p.Ser121Gly
ENST00000696584.1:n.885A>G
ENST00000696585.1:n.408A>G
ENST00000696586.1:n.408A>G
ENST00000696587.1:c.361A>G	ENSP00000512737.1:p.Ser121Gly
ENST00000696588.1:c.-249A>G	ENSP00000513251.1:n.-249A>G
ENST00000696627.1:c.361A>G	ENSP00000512764.1:p.Ser121Gly
ENST00000696628.1:c.361A>G	ENSP00000512765.1:p.Ser121Gly
ENST00000369550.10:c.361A>G MANE Select	ENSP00000358563.5:p.Ser121Gly
ENST00000369550.9:c.361A>G	ENSP00000358563.5:p.Ser121Gly
ENST00000413910.5:c.361A>G	ENSP00000400542.1:p.Ser121Gly
ENST00000437719.5:c.317A>G
ENST00000452771.5:c.319A>G	ENSP00000407325.1:p.Ser107Gly
ENST00000473552.1:n.414A>G
ENST00000620277.4:c.361A>G	ENSP00000478387.1:p.Ser121Gly
NM_001142463.2:c.361A>G	NP_001135935.1:p.Ser121Gly
NM_001288747.1:c.361A>G	NP_001275676.1:p.Ser121Gly
NM_001363.4:c.361A>G	NP_001354.1:p.Ser121Gly
NR_110021.1:n.1062A>G
NR_110022.1:n.585A>G
NR_110023.1:n.585A>G
NM_001363.5:c.361A>G MANE Select	NP_001354.1:p.Ser121Gly
NM_001142463.3:c.361A>G	NP_001135935.1:p.Ser121Gly
NR_110021.2:n.940A>G
NR_110022.2:n.463A>G
NR_110023.2:n.463A>G
NM_001288747.2:c.361A>G	NP_001275676.1:p.Ser121Gly