Canonical Allele Identifier: CA337308289

Gene: DKC1

Linked Data

• ClinVar Variation Id: 2972681
• ClinVar RCV Id: RCV003837791
• dbSNP Id: rs1036932842
• gnomAD v3: X-154765954-A-G
• gnomAD v4: X-154765954-A-G
• MyVariant Identifiers: chrX:g.153994229A>G (hg19) ; chrX:g.154765954A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765954A>G , CM000685.2:g.154765954A>G	GRCh38
NC_000023.10:g.153994229A>G , CM000685.1:g.153994229A>G	GRCh37
NC_000023.9:g.153647423A>G	NCBI36
NG_009780.1:g.8199A>G , LRG_55:g.8199A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.219A>G	ENSP00000400542.2:p.Ala73=
ENST00000426673.6:c.219A>G	ENSP00000407253.3:p.Ala73=
ENST00000696575.1:c.219A>G	ENSP00000512730.1:p.Ala73=
ENST00000696576.1:n.321A>G
ENST00000696577.1:c.219A>G	ENSP00000512731.1:p.Ala73=
ENST00000696578.1:c.219A>G	ENSP00000512732.1:p.Ala73=
ENST00000696579.1:n.321A>G
ENST00000696580.1:c.132A>G	ENSP00000512733.1:p.Ala44=
ENST00000696581.1:c.*193A>G	ENSP00000512734.1:n.*193A>G
ENST00000696582.1:c.219A>G	ENSP00000512735.1:p.Ala73=
ENST00000696583.1:c.219A>G	ENSP00000512736.1:p.Ala73=
ENST00000696584.1:n.743A>G
ENST00000696585.1:n.266A>G
ENST00000696586.1:n.266A>G
ENST00000696587.1:c.219A>G	ENSP00000512737.1:p.Ala73=
ENST00000696588.1:c.-391A>G	ENSP00000513251.1:n.-391A>G
ENST00000696627.1:c.219A>G	ENSP00000512764.1:p.Ala73=
ENST00000696628.1:c.219A>G	ENSP00000512765.1:p.Ala73=
ENST00000369550.10:c.219A>G MANE Select	ENSP00000358563.5:p.Ala73=
ENST00000369550.9:c.219A>G	ENSP00000358563.5:p.Ala73=
ENST00000413910.5:c.219A>G	ENSP00000400542.1:p.Ala73=
ENST00000437719.5:c.175A>G
ENST00000452771.5:c.177A>G	ENSP00000407325.1:p.Ala59=
ENST00000473552.1:n.272A>G
ENST00000620277.4:c.219A>G	ENSP00000478387.1:p.Ala73=
NM_001142463.2:c.219A>G	NP_001135935.1:p.Ala73=
NM_001288747.1:c.219A>G	NP_001275676.1:p.Ala73=
NM_001363.4:c.219A>G	NP_001354.1:p.Ala73=
NR_110021.1:n.920A>G
NR_110022.1:n.443A>G
NR_110023.1:n.443A>G
NM_001363.5:c.219A>G MANE Select	NP_001354.1:p.Ala73=
NM_001142463.3:c.219A>G	NP_001135935.1:p.Ala73=
NR_110021.2:n.798A>G
NR_110022.2:n.321A>G
NR_110023.2:n.321A>G
NM_001288747.2:c.219A>G	NP_001275676.1:p.Ala73=