Canonical Allele Identifier: CA414889378

Gene: DKC1

Linked Data

• ClinVar Variation Id: 1343818
• ClinVar RCV Id: RCV001845042
• dbSNP Id: rs199422245
• MyVariant Identifiers: chrX:g.153994214C>G (hg19) ; chrX:g.154765939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765939C>G , CM000685.2:g.154765939C>G	GRCh38
NC_000023.10:g.153994214C>G , CM000685.1:g.153994214C>G	GRCh37
NC_000023.9:g.153647408C>G	NCBI36
NG_009780.1:g.8184C>G , LRG_55:g.8184C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.204C>G	ENSP00000400542.2:p.His68Gln
ENST00000426673.6:c.204C>G	ENSP00000407253.3:p.His68Gln
ENST00000696575.1:c.204C>G	ENSP00000512730.1:p.His68Gln
ENST00000696576.1:n.306C>G
ENST00000696577.1:c.204C>G	ENSP00000512731.1:p.His68Gln
ENST00000696578.1:c.204C>G	ENSP00000512732.1:p.His68Gln
ENST00000696579.1:n.306C>G
ENST00000696580.1:c.117C>G	ENSP00000512733.1:p.His39Gln
ENST00000696581.1:c.*178C>G	ENSP00000512734.1:n.*178C>G
ENST00000696582.1:c.204C>G	ENSP00000512735.1:p.His68Gln
ENST00000696583.1:c.204C>G	ENSP00000512736.1:p.His68Gln
ENST00000696584.1:n.728C>G
ENST00000696585.1:n.251C>G
ENST00000696586.1:n.251C>G
ENST00000696587.1:c.204C>G	ENSP00000512737.1:p.His68Gln
ENST00000696588.1:c.-406C>G	ENSP00000513251.1:n.-406C>G
ENST00000696627.1:c.204C>G	ENSP00000512764.1:p.His68Gln
ENST00000696628.1:c.204C>G	ENSP00000512765.1:p.His68Gln
ENST00000369550.10:c.204C>G MANE Select	ENSP00000358563.5:p.His68Gln
ENST00000369550.9:c.204C>G	ENSP00000358563.5:p.His68Gln
ENST00000413910.5:c.204C>G	ENSP00000400542.1:p.His68Gln
ENST00000437719.5:c.160C>G
ENST00000452771.5:c.162C>G	ENSP00000407325.1:p.His54Gln
ENST00000473552.1:n.257C>G
ENST00000620277.4:c.204C>G	ENSP00000478387.1:p.His68Gln
NM_001142463.2:c.204C>G	NP_001135935.1:p.His68Gln
NM_001288747.1:c.204C>G	NP_001275676.1:p.His68Gln
NM_001363.4:c.204C>G	NP_001354.1:p.His68Gln
NR_110021.1:n.905C>G
NR_110022.1:n.428C>G
NR_110023.1:n.428C>G
NM_001363.5:c.204C>G MANE Select	NP_001354.1:p.His68Gln
NM_001142463.3:c.204C>G	NP_001135935.1:p.His68Gln
NR_110021.2:n.783C>G
NR_110022.2:n.306C>G
NR_110023.2:n.306C>G
NM_001288747.2:c.204C>G	NP_001275676.1:p.His68Gln