Canonical Allele Identifier: CA414896229

Gene: DKC1

Linked Data

• gnomAD v4: X-154773247-A-G
• MyVariant Identifiers: chrX:g.154001522A>G (hg19) ; chrX:g.154773247A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773247A>G , CM000685.2:g.154773247A>G	GRCh38
NC_000023.10:g.154001522A>G , CM000685.1:g.154001522A>G	GRCh37
NC_000023.9:g.153654716A>G	NCBI36
NG_009780.1:g.15492A>G , LRG_55:g.15492A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1033A>G	ENSP00000400542.2:p.Lys345Glu
ENST00000426673.6:c.*536A>G	ENSP00000407253.3:n.*536A>G
ENST00000484317.6:n.938A>G
ENST00000696575.1:c.1153A>G	ENSP00000512730.1:p.Lys385Glu
ENST00000696577.1:c.1153A>G	ENSP00000512731.1:p.Lys385Glu
ENST00000696578.1:c.*105A>G	ENSP00000512732.1:n.*105A>G
ENST00000696579.1:n.1255A>G
ENST00000696580.1:c.1066A>G	ENSP00000512733.1:p.Lys356Glu
ENST00000696581.1:c.*1127A>G	ENSP00000512734.1:n.*1127A>G
ENST00000696582.1:c.*359A>G	ENSP00000512735.1:n.*359A>G
ENST00000696583.1:c.1114A>G	ENSP00000512736.1:p.Lys372Glu
ENST00000696584.1:n.1677A>G
ENST00000696585.1:n.1796A>G
ENST00000696586.1:n.1570A>G
ENST00000696587.1:c.1033A>G	ENSP00000512737.1:p.Lys345Glu
ENST00000696588.1:c.544A>G	ENSP00000513251.1:p.Lys182Glu
ENST00000696589.1:n.928A>G
ENST00000696590.1:n.777A>G
ENST00000696591.1:n.502A>G
ENST00000696592.1:n.2032A>G
ENST00000696627.1:c.1153A>G	ENSP00000512764.1:p.Lys385Glu
ENST00000696628.1:c.1153A>G	ENSP00000512765.1:p.Lys385Glu
ENST00000369550.10:c.1153A>G MANE Select	ENSP00000358563.5:p.Lys385Glu
ENST00000369550.9:c.1153A>G	ENSP00000358563.5:p.Lys385Glu
ENST00000412124.5:c.411A>G
ENST00000426673.5:c.513A>G
ENST00000475966.1:n.642A>G
ENST00000481062.1:n.104A>G
ENST00000620277.4:c.1153A>G	ENSP00000478387.1:p.Lys385Glu
NM_001142463.2:c.1153A>G	NP_001135935.1:p.Lys385Glu
NM_001288747.1:c.1153A>G	NP_001275676.1:p.Lys385Glu
NM_001363.4:c.1153A>G	NP_001354.1:p.Lys385Glu
NR_110021.1:n.1854A>G
NR_110022.1:n.1973A>G
NR_110023.1:n.1747A>G
NM_001363.5:c.1153A>G MANE Select	NP_001354.1:p.Lys385Glu
NM_001142463.3:c.1153A>G	NP_001135935.1:p.Lys385Glu
NR_110021.2:n.1732A>G
NR_110022.2:n.1851A>G
NR_110023.2:n.1625A>G
NM_001288747.2:c.1153A>G	NP_001275676.1:p.Lys385Glu