Canonical Allele Identifier: CA414896133

Gene: DKC1

Linked Data

• gnomAD v4: X-154773236-G-A
• MyVariant Identifiers: chrX:g.154001511G>A (hg19) ; chrX:g.154773236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773236G>A , CM000685.2:g.154773236G>A	GRCh38
NC_000023.10:g.154001511G>A , CM000685.1:g.154001511G>A	GRCh37
NC_000023.9:g.153654705G>A	NCBI36
NG_009780.1:g.15481G>A , LRG_55:g.15481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1022G>A	ENSP00000400542.2:p.Gly341Asp
ENST00000426673.6:c.*525G>A	ENSP00000407253.3:n.*525G>A
ENST00000484317.6:n.927G>A
ENST00000696575.1:c.1142G>A	ENSP00000512730.1:p.Gly381Asp
ENST00000696577.1:c.1142G>A	ENSP00000512731.1:p.Gly381Asp
ENST00000696578.1:c.*94G>A	ENSP00000512732.1:n.*94G>A
ENST00000696579.1:n.1244G>A
ENST00000696580.1:c.1055G>A	ENSP00000512733.1:p.Gly352Asp
ENST00000696581.1:c.*1116G>A	ENSP00000512734.1:n.*1116G>A
ENST00000696582.1:c.*348G>A	ENSP00000512735.1:n.*348G>A
ENST00000696583.1:c.1103G>A	ENSP00000512736.1:p.Gly368Asp
ENST00000696584.1:n.1666G>A
ENST00000696585.1:n.1785G>A
ENST00000696586.1:n.1559G>A
ENST00000696587.1:c.1022G>A	ENSP00000512737.1:p.Gly341Asp
ENST00000696588.1:c.533G>A	ENSP00000513251.1:p.Gly178Asp
ENST00000696589.1:n.917G>A
ENST00000696590.1:n.766G>A
ENST00000696591.1:n.491G>A
ENST00000696592.1:n.2021G>A
ENST00000696627.1:c.1142G>A	ENSP00000512764.1:p.Gly381Asp
ENST00000696628.1:c.1142G>A	ENSP00000512765.1:p.Gly381Asp
ENST00000369550.10:c.1142G>A MANE Select	ENSP00000358563.5:p.Gly381Asp
ENST00000369550.9:c.1142G>A	ENSP00000358563.5:p.Gly381Asp
ENST00000412124.5:c.400G>A
ENST00000426673.5:c.502G>A
ENST00000475966.1:n.631G>A
ENST00000481062.1:n.93G>A
ENST00000620277.4:c.1142G>A	ENSP00000478387.1:p.Gly381Asp
NM_001142463.2:c.1142G>A	NP_001135935.1:p.Gly381Asp
NM_001288747.1:c.1142G>A	NP_001275676.1:p.Gly381Asp
NM_001363.4:c.1142G>A	NP_001354.1:p.Gly381Asp
NR_110021.1:n.1843G>A
NR_110022.1:n.1962G>A
NR_110023.1:n.1736G>A
NM_001363.5:c.1142G>A MANE Select	NP_001354.1:p.Gly381Asp
NM_001142463.3:c.1142G>A	NP_001135935.1:p.Gly381Asp
NR_110021.2:n.1721G>A
NR_110022.2:n.1840G>A
NR_110023.2:n.1614G>A
NM_001288747.2:c.1142G>A	NP_001275676.1:p.Gly381Asp