Canonical Allele Identifier: CA414899502

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004493A>C (hg19) ; chrX:g.154776218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776218A>C , CM000685.2:g.154776218A>C	GRCh38
NC_000023.10:g.154004493A>C , CM000685.1:g.154004493A>C	GRCh37
NC_000023.9:g.153657687A>C	NCBI36
NG_009780.1:g.18463A>C , LRG_55:g.18463A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*166A>C	ENSP00000400542.2:n.*166A>C
ENST00000426673.6:c.*812A>C	ENSP00000407253.3:n.*812A>C
ENST00000484317.6:n.1644A>C
ENST00000492372.2:n.308A>C
ENST00000696575.1:c.1355A>C	ENSP00000512730.1:p.Glu452Ala
ENST00000696577.1:c.1370A>C	ENSP00000512731.1:p.Glu457Ala
ENST00000696578.1:c.*322A>C	ENSP00000512732.1:n.*322A>C
ENST00000696579.1:n.2385A>C
ENST00000696580.1:c.1283A>C	ENSP00000512733.1:p.Glu428Ala
ENST00000696581.1:c.*1344A>C	ENSP00000512734.1:n.*1344A>C
ENST00000696582.1:c.*576A>C	ENSP00000512735.1:n.*576A>C
ENST00000696583.1:c.1331A>C	ENSP00000512736.1:p.Glu444Ala
ENST00000696584.1:n.1894A>C
ENST00000696585.1:n.2013A>C
ENST00000696586.1:n.1787A>C
ENST00000696587.1:c.1250A>C	ENSP00000512737.1:p.Glu417Ala
ENST00000696588.1:c.761A>C	ENSP00000513251.1:p.Glu254Ala
ENST00000696589.1:n.1145A>C
ENST00000696590.1:n.2396A>C
ENST00000696591.1:n.719A>C
ENST00000696592.1:n.3651A>C
ENST00000696627.1:c.*196A>C	ENSP00000512764.1:n.*196A>C
ENST00000696628.1:c.1370A>C	ENSP00000512765.1:p.Glu457Ala
ENST00000369550.10:c.1370A>C MANE Select	ENSP00000358563.5:p.Glu457Ala
ENST00000369550.9:c.1370A>C	ENSP00000358563.5:p.Glu457Ala
ENST00000412124.5:c.628A>C
ENST00000426673.5:c.789A>C
ENST00000475966.1:n.859A>C
ENST00000492372.1:n.187A>C
ENST00000620277.4:c.*596A>C	ENSP00000478387.1:n.*596A>C
NM_001142463.2:c.1355A>C	NP_001135935.1:p.Glu452Ala
NM_001288747.1:c.*596A>C	NP_001275676.1:n.*596A>C
NM_001363.4:c.1370A>C	NP_001354.1:p.Glu457Ala
NR_110021.1:n.2071A>C
NR_110022.1:n.2190A>C
NR_110023.1:n.1964A>C
NM_001363.5:c.1370A>C MANE Select	NP_001354.1:p.Glu457Ala
NM_001142463.3:c.1355A>C	NP_001135935.1:p.Glu452Ala
NR_110021.2:n.1949A>C
NR_110022.2:n.2068A>C
NR_110023.2:n.1842A>C
NM_001288747.2:c.*596A>C	NP_001275676.1:n.*596A>C