Canonical Allele Identifier: CA179969

Gene: DKC1

Linked Data

• ClinVar Variation Id: 166994
• ClinVar RCV Id: RCV000153151 ; RCV000787028 ; RCV001514140
• dbSNP Id: rs2728532
• ExAC: X:153994596 G / T
• gnomAD v2: X-153994596-G-T
• gnomAD v3: X-154766321-G-T
• gnomAD v4: X-154766321-G-T
• MyVariant Identifiers: chrX:g.153994596G>T (hg19) ; chrX:g.154766321G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154766321G>T , CM000685.2:g.154766321G>T	GRCh38
NC_000023.10:g.153994596G>T , CM000685.1:g.153994596G>T	GRCh37
NC_000023.9:g.153647790G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.369G>T	ENSP00000400542.2:p.Thr123=
ENST00000426673.6:c.369G>T	ENSP00000407253.3:p.Thr123=
ENST00000696575.1:c.369G>T	ENSP00000512730.1:p.Thr123=
ENST00000696576.1:n.471G>T
ENST00000696577.1:c.369G>T	ENSP00000512731.1:p.Thr123=
ENST00000696578.1:c.369G>T	ENSP00000512732.1:p.Thr123=
ENST00000696579.1:n.471G>T
ENST00000696580.1:c.282G>T	ENSP00000512733.1:p.Thr94=
ENST00000696581.1:c.*343G>T	ENSP00000512734.1:n.*343G>T
ENST00000696582.1:c.369G>T	ENSP00000512735.1:p.Thr123=
ENST00000696583.1:c.369G>T	ENSP00000512736.1:p.Thr123=
ENST00000696584.1:n.893G>T
ENST00000696585.1:n.416G>T
ENST00000696586.1:n.416G>T
ENST00000696587.1:c.369G>T	ENSP00000512737.1:p.Thr123=
ENST00000696588.1:c.-241G>T	ENSP00000513251.1:n.-241G>T
ENST00000696627.1:c.369G>T	ENSP00000512764.1:p.Thr123=
ENST00000696628.1:c.369G>T	ENSP00000512765.1:p.Thr123=
ENST00000369550.10:c.369G>T MANE Select	ENSP00000358563.5:p.Thr123=
ENST00000369550.9:c.369G>T	ENSP00000358563.5:p.Thr123=
ENST00000413910.5:c.369G>T	ENSP00000400542.1:p.Thr123=
ENST00000437719.5:c.325G>T
ENST00000452771.5:c.327G>T	ENSP00000407325.1:p.Thr109=
ENST00000473552.1:n.422G>T
ENST00000620277.4:c.369G>T	ENSP00000478387.1:p.Thr123=
NM_001363.5:c.369G>T MANE Select	NP_001354.1:p.Thr123=
NM_001142463.3:c.369G>T	NP_001135935.1:p.Thr123=
NR_110021.2:n.948G>T
NR_110022.2:n.471G>T
NR_110023.2:n.471G>T
NM_001288747.2:c.369G>T	NP_001275676.1:p.Thr123=