Canonical Allele Identifier: CA414896250

Gene: DKC1

Linked Data

• gnomAD v4: X-154773249-G-T
• MyVariant Identifiers: chrX:g.154001524G>T (hg19) ; chrX:g.154773249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773249G>T , CM000685.2:g.154773249G>T	GRCh38
NC_000023.10:g.154001524G>T , CM000685.1:g.154001524G>T	GRCh37
NC_000023.9:g.153654718G>T	NCBI36
NG_009780.1:g.15494G>T , LRG_55:g.15494G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1035G>T	ENSP00000400542.2:p.Lys345Asn
ENST00000426673.6:c.*538G>T	ENSP00000407253.3:n.*538G>T
ENST00000484317.6:n.940G>T
ENST00000696575.1:c.1155G>T	ENSP00000512730.1:p.Lys385Asn
ENST00000696577.1:c.1155G>T	ENSP00000512731.1:p.Lys385Asn
ENST00000696578.1:c.*107G>T	ENSP00000512732.1:n.*107G>T
ENST00000696579.1:n.1257G>T
ENST00000696580.1:c.1068G>T	ENSP00000512733.1:p.Lys356Asn
ENST00000696581.1:c.*1129G>T	ENSP00000512734.1:n.*1129G>T
ENST00000696582.1:c.*361G>T	ENSP00000512735.1:n.*361G>T
ENST00000696583.1:c.1116G>T	ENSP00000512736.1:p.Lys372Asn
ENST00000696584.1:n.1679G>T
ENST00000696585.1:n.1798G>T
ENST00000696586.1:n.1572G>T
ENST00000696587.1:c.1035G>T	ENSP00000512737.1:p.Lys345Asn
ENST00000696588.1:c.546G>T	ENSP00000513251.1:p.Lys182Asn
ENST00000696589.1:n.930G>T
ENST00000696590.1:n.779G>T
ENST00000696591.1:n.504G>T
ENST00000696592.1:n.2034G>T
ENST00000696627.1:c.1155G>T	ENSP00000512764.1:p.Lys385Asn
ENST00000696628.1:c.1155G>T	ENSP00000512765.1:p.Lys385Asn
ENST00000369550.10:c.1155G>T MANE Select	ENSP00000358563.5:p.Lys385Asn
ENST00000369550.9:c.1155G>T	ENSP00000358563.5:p.Lys385Asn
ENST00000412124.5:c.413G>T
ENST00000426673.5:c.515G>T
ENST00000475966.1:n.644G>T
ENST00000481062.1:n.106G>T
ENST00000620277.4:c.1155G>T	ENSP00000478387.1:p.Lys385Asn
NM_001142463.2:c.1155G>T	NP_001135935.1:p.Lys385Asn
NM_001288747.1:c.1155G>T	NP_001275676.1:p.Lys385Asn
NM_001363.4:c.1155G>T	NP_001354.1:p.Lys385Asn
NR_110021.1:n.1856G>T
NR_110022.1:n.1975G>T
NR_110023.1:n.1749G>T
NM_001363.5:c.1155G>T MANE Select	NP_001354.1:p.Lys385Asn
NM_001142463.3:c.1155G>T	NP_001135935.1:p.Lys385Asn
NR_110021.2:n.1734G>T
NR_110022.2:n.1853G>T
NR_110023.2:n.1627G>T
NM_001288747.2:c.1155G>T	NP_001275676.1:p.Lys385Asn