Canonical Allele Identifier: CA873369224

Gene: DKC1

Linked Data

• dbSNP Id: rs1473800329
• MyVariant Identifiers: chrX:g.154772911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154772911G>A , CM000685.2:g.154772911G>A	GRCh38
NC_000023.10:g.154001186G>A , CM000685.1:g.154001186G>A	GRCh37
NC_000023.9:g.153654380G>A	NCBI36
NG_009780.1:g.15156G>A , LRG_55:g.15156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.917-220G>A	ENSP00000400542.2:n.917-220G>A
ENST00000426673.6:c.*420-220G>A	ENSP00000407253.3:n.*420-220G>A
ENST00000484317.6:n.822-220G>A
ENST00000696575.1:c.1037-220G>A	ENSP00000512730.1:n.1037-220G>A
ENST00000696577.1:c.1037-220G>A	ENSP00000512731.1:n.1037-220G>A
ENST00000696578.1:c.916-220G>A	ENSP00000512732.1:n.916-220G>A
ENST00000696579.1:n.1139-220G>A
ENST00000696580.1:c.950-220G>A	ENSP00000512733.1:n.950-220G>A
ENST00000696581.1:c.*1011-220G>A	ENSP00000512734.1:n.*1011-220G>A
ENST00000696582.1:c.*243-220G>A	ENSP00000512735.1:n.*243-220G>A
ENST00000696583.1:c.998-220G>A	ENSP00000512736.1:n.998-220G>A
ENST00000696584.1:n.1561-220G>A
ENST00000696585.1:n.1680-220G>A
ENST00000696586.1:n.1454-220G>A
ENST00000696587.1:c.917-220G>A	ENSP00000512737.1:n.917-220G>A
ENST00000696588.1:c.428-220G>A	ENSP00000513251.1:n.428-220G>A
ENST00000696589.1:n.812-220G>A
ENST00000696590.1:n.661-220G>A
ENST00000696591.1:n.386-220G>A
ENST00000696592.1:n.1696G>A
ENST00000696627.1:c.1037-220G>A	ENSP00000512764.1:n.1037-220G>A
ENST00000696628.1:c.1037-220G>A	ENSP00000512765.1:n.1037-220G>A
ENST00000369550.10:c.1037-220G>A MANE Select	ENSP00000358563.5:n.1037-220G>A
ENST00000369550.9:c.1037-220G>A	ENSP00000358563.5:n.1037-220G>A
ENST00000412124.5:c.295-220G>A
ENST00000426673.5:c.397-220G>A
ENST00000475966.1:n.526-220G>A
ENST00000620277.4:c.1037-220G>A	ENSP00000478387.1:n.1037-220G>A
NM_001142463.2:c.1037-220G>A	NP_001135935.1:n.1037-220G>A
NM_001288747.1:c.1037-220G>A	NP_001275676.1:n.1037-220G>A
NM_001363.4:c.1037-220G>A	NP_001354.1:n.1037-220G>A
NR_110021.1:n.1738-220G>A
NR_110022.1:n.1857-220G>A
NR_110023.1:n.1631-220G>A
NM_001363.5:c.1037-220G>A MANE Select	NP_001354.1:n.1037-220G>A
NM_001142463.3:c.1037-220G>A	NP_001135935.1:n.1037-220G>A
NR_110021.2:n.1616-220G>A
NR_110022.2:n.1735-220G>A
NR_110023.2:n.1509-220G>A
NM_001288747.2:c.1037-220G>A	NP_001275676.1:n.1037-220G>A