Canonical Allele Identifier: CA414895437

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001471A>T (hg19) ; chrX:g.154773196A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773196A>T , CM000685.2:g.154773196A>T	GRCh38
NC_000023.10:g.154001471A>T , CM000685.1:g.154001471A>T	GRCh37
NC_000023.9:g.153654665A>T	NCBI36
NG_009780.1:g.15441A>T , LRG_55:g.15441A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.982A>T	ENSP00000400542.2:p.Arg328Ter
ENST00000426673.6:c.*485A>T	ENSP00000407253.3:n.*485A>T
ENST00000484317.6:n.887A>T
ENST00000696575.1:c.1102A>T	ENSP00000512730.1:p.Arg368Ter
ENST00000696577.1:c.1102A>T	ENSP00000512731.1:p.Arg368Ter
ENST00000696578.1:c.*54A>T	ENSP00000512732.1:n.*54A>T
ENST00000696579.1:n.1204A>T
ENST00000696580.1:c.1015A>T	ENSP00000512733.1:p.Arg339Ter
ENST00000696581.1:c.*1076A>T	ENSP00000512734.1:n.*1076A>T
ENST00000696582.1:c.*308A>T	ENSP00000512735.1:n.*308A>T
ENST00000696583.1:c.1063A>T	ENSP00000512736.1:p.Arg355Ter
ENST00000696584.1:n.1626A>T
ENST00000696585.1:n.1745A>T
ENST00000696586.1:n.1519A>T
ENST00000696587.1:c.982A>T	ENSP00000512737.1:p.Arg328Ter
ENST00000696588.1:c.493A>T	ENSP00000513251.1:p.Arg165Ter
ENST00000696589.1:n.877A>T
ENST00000696590.1:n.726A>T
ENST00000696591.1:n.451A>T
ENST00000696592.1:n.1981A>T
ENST00000696627.1:c.1102A>T	ENSP00000512764.1:p.Arg368Ter
ENST00000696628.1:c.1102A>T	ENSP00000512765.1:p.Arg368Ter
ENST00000369550.10:c.1102A>T MANE Select	ENSP00000358563.5:p.Arg368Ter
ENST00000369550.9:c.1102A>T	ENSP00000358563.5:p.Arg368Ter
ENST00000412124.5:c.360A>T
ENST00000426673.5:c.462A>T
ENST00000475966.1:n.591A>T
ENST00000481062.1:n.53A>T
ENST00000620277.4:c.1102A>T	ENSP00000478387.1:p.Arg368Ter
NM_001142463.2:c.1102A>T	NP_001135935.1:p.Arg368Ter
NM_001288747.1:c.1102A>T	NP_001275676.1:p.Arg368Ter
NM_001363.4:c.1102A>T	NP_001354.1:p.Arg368Ter
NR_110021.1:n.1803A>T
NR_110022.1:n.1922A>T
NR_110023.1:n.1696A>T
NM_001363.5:c.1102A>T MANE Select	NP_001354.1:p.Arg368Ter
NM_001142463.3:c.1102A>T	NP_001135935.1:p.Arg368Ter
NR_110021.2:n.1681A>T
NR_110022.2:n.1800A>T
NR_110023.2:n.1574A>T
NM_001288747.2:c.1102A>T	NP_001275676.1:p.Arg368Ter