Canonical Allele Identifier: CA519357873

Gene: DKC1

Linked Data

• gnomAD v4: X-154773195-G-A
• MyVariant Identifiers: chrX:g.154001470G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773195G>A , CM000685.2:g.154773195G>A	GRCh38
NC_000023.10:g.154001470G>A , CM000685.1:g.154001470G>A	GRCh37
NC_000023.9:g.153654664G>A	NCBI36
NG_009780.1:g.15440G>A , LRG_55:g.15440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.981G>A	ENSP00000400542.2:p.Lys327=
ENST00000426673.6:c.*484G>A	ENSP00000407253.3:n.*484G>A
ENST00000484317.6:n.886G>A
ENST00000696575.1:c.1101G>A	ENSP00000512730.1:p.Lys367=
ENST00000696577.1:c.1101G>A	ENSP00000512731.1:p.Lys367=
ENST00000696578.1:c.*53G>A	ENSP00000512732.1:n.*53G>A
ENST00000696579.1:n.1203G>A
ENST00000696580.1:c.1014G>A	ENSP00000512733.1:p.Lys338=
ENST00000696581.1:c.*1075G>A	ENSP00000512734.1:n.*1075G>A
ENST00000696582.1:c.*307G>A	ENSP00000512735.1:n.*307G>A
ENST00000696583.1:c.1062G>A	ENSP00000512736.1:p.Lys354=
ENST00000696584.1:n.1625G>A
ENST00000696585.1:n.1744G>A
ENST00000696586.1:n.1518G>A
ENST00000696587.1:c.981G>A	ENSP00000512737.1:p.Lys327=
ENST00000696588.1:c.492G>A	ENSP00000513251.1:p.Lys164=
ENST00000696589.1:n.876G>A
ENST00000696590.1:n.725G>A
ENST00000696591.1:n.450G>A
ENST00000696592.1:n.1980G>A
ENST00000696627.1:c.1101G>A	ENSP00000512764.1:p.Lys367=
ENST00000696628.1:c.1101G>A	ENSP00000512765.1:p.Lys367=
ENST00000369550.10:c.1101G>A MANE Select	ENSP00000358563.5:p.Lys367=
ENST00000369550.9:c.1101G>A	ENSP00000358563.5:p.Lys367=
ENST00000412124.5:c.359G>A
ENST00000426673.5:c.461G>A
ENST00000475966.1:n.590G>A
ENST00000481062.1:n.52G>A
ENST00000620277.4:c.1101G>A	ENSP00000478387.1:p.Lys367=
NM_001142463.2:c.1101G>A	NP_001135935.1:p.Lys367=
NM_001288747.1:c.1101G>A	NP_001275676.1:p.Lys367=
NM_001363.4:c.1101G>A	NP_001354.1:p.Lys367=
NR_110021.1:n.1802G>A
NR_110022.1:n.1921G>A
NR_110023.1:n.1695G>A
NM_001363.5:c.1101G>A MANE Select	NP_001354.1:p.Lys367=
NM_001142463.3:c.1101G>A	NP_001135935.1:p.Lys367=
NR_110021.2:n.1680G>A
NR_110022.2:n.1799G>A
NR_110023.2:n.1573G>A
NM_001288747.2:c.1101G>A	NP_001275676.1:p.Lys367=