Canonical Allele Identifier: CA414896208

Gene: DKC1

Linked Data

• gnomAD v4: X-154773244-C-A
• MyVariant Identifiers: chrX:g.154001519C>A (hg19) ; chrX:g.154773244C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773244C>A , CM000685.2:g.154773244C>A	GRCh38
NC_000023.10:g.154001519C>A , CM000685.1:g.154001519C>A	GRCh37
NC_000023.9:g.153654713C>A	NCBI36
NG_009780.1:g.15489C>A , LRG_55:g.15489C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1030C>A	ENSP00000400542.2:p.Pro344Thr
ENST00000426673.6:c.*533C>A	ENSP00000407253.3:n.*533C>A
ENST00000484317.6:n.935C>A
ENST00000696575.1:c.1150C>A	ENSP00000512730.1:p.Pro384Thr
ENST00000696577.1:c.1150C>A	ENSP00000512731.1:p.Pro384Thr
ENST00000696578.1:c.*102C>A	ENSP00000512732.1:n.*102C>A
ENST00000696579.1:n.1252C>A
ENST00000696580.1:c.1063C>A	ENSP00000512733.1:p.Pro355Thr
ENST00000696581.1:c.*1124C>A	ENSP00000512734.1:n.*1124C>A
ENST00000696582.1:c.*356C>A	ENSP00000512735.1:n.*356C>A
ENST00000696583.1:c.1111C>A	ENSP00000512736.1:p.Pro371Thr
ENST00000696584.1:n.1674C>A
ENST00000696585.1:n.1793C>A
ENST00000696586.1:n.1567C>A
ENST00000696587.1:c.1030C>A	ENSP00000512737.1:p.Pro344Thr
ENST00000696588.1:c.541C>A	ENSP00000513251.1:p.Pro181Thr
ENST00000696589.1:n.925C>A
ENST00000696590.1:n.774C>A
ENST00000696591.1:n.499C>A
ENST00000696592.1:n.2029C>A
ENST00000696627.1:c.1150C>A	ENSP00000512764.1:p.Pro384Thr
ENST00000696628.1:c.1150C>A	ENSP00000512765.1:p.Pro384Thr
ENST00000369550.10:c.1150C>A MANE Select	ENSP00000358563.5:p.Pro384Thr
ENST00000369550.9:c.1150C>A	ENSP00000358563.5:p.Pro384Thr
ENST00000412124.5:c.408C>A
ENST00000426673.5:c.510C>A
ENST00000475966.1:n.639C>A
ENST00000481062.1:n.101C>A
ENST00000620277.4:c.1150C>A	ENSP00000478387.1:p.Pro384Thr
NM_001142463.2:c.1150C>A	NP_001135935.1:p.Pro384Thr
NM_001288747.1:c.1150C>A	NP_001275676.1:p.Pro384Thr
NM_001363.4:c.1150C>A	NP_001354.1:p.Pro384Thr
NR_110021.1:n.1851C>A
NR_110022.1:n.1970C>A
NR_110023.1:n.1744C>A
NM_001363.5:c.1150C>A MANE Select	NP_001354.1:p.Pro384Thr
NM_001142463.3:c.1150C>A	NP_001135935.1:p.Pro384Thr
NR_110021.2:n.1729C>A
NR_110022.2:n.1848C>A
NR_110023.2:n.1622C>A
NM_001288747.2:c.1150C>A	NP_001275676.1:p.Pro384Thr