Canonical Allele Identifier: CA414895441

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001472G>A (hg19) ; chrX:g.154773197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773197G>A , CM000685.2:g.154773197G>A	GRCh38
NC_000023.10:g.154001472G>A , CM000685.1:g.154001472G>A	GRCh37
NC_000023.9:g.153654666G>A	NCBI36
NG_009780.1:g.15442G>A , LRG_55:g.15442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.983G>A	ENSP00000400542.2:p.Arg328Lys
ENST00000426673.6:c.*486G>A	ENSP00000407253.3:n.*486G>A
ENST00000484317.6:n.888G>A
ENST00000696575.1:c.1103G>A	ENSP00000512730.1:p.Arg368Lys
ENST00000696577.1:c.1103G>A	ENSP00000512731.1:p.Arg368Lys
ENST00000696578.1:c.*55G>A	ENSP00000512732.1:n.*55G>A
ENST00000696579.1:n.1205G>A
ENST00000696580.1:c.1016G>A	ENSP00000512733.1:p.Arg339Lys
ENST00000696581.1:c.*1077G>A	ENSP00000512734.1:n.*1077G>A
ENST00000696582.1:c.*309G>A	ENSP00000512735.1:n.*309G>A
ENST00000696583.1:c.1064G>A	ENSP00000512736.1:p.Arg355Lys
ENST00000696584.1:n.1627G>A
ENST00000696585.1:n.1746G>A
ENST00000696586.1:n.1520G>A
ENST00000696587.1:c.983G>A	ENSP00000512737.1:p.Arg328Lys
ENST00000696588.1:c.494G>A	ENSP00000513251.1:p.Arg165Lys
ENST00000696589.1:n.878G>A
ENST00000696590.1:n.727G>A
ENST00000696591.1:n.452G>A
ENST00000696592.1:n.1982G>A
ENST00000696627.1:c.1103G>A	ENSP00000512764.1:p.Arg368Lys
ENST00000696628.1:c.1103G>A	ENSP00000512765.1:p.Arg368Lys
ENST00000369550.10:c.1103G>A MANE Select	ENSP00000358563.5:p.Arg368Lys
ENST00000369550.9:c.1103G>A	ENSP00000358563.5:p.Arg368Lys
ENST00000412124.5:c.361G>A
ENST00000426673.5:c.463G>A
ENST00000475966.1:n.592G>A
ENST00000481062.1:n.54G>A
ENST00000620277.4:c.1103G>A	ENSP00000478387.1:p.Arg368Lys
NM_001142463.2:c.1103G>A	NP_001135935.1:p.Arg368Lys
NM_001288747.1:c.1103G>A	NP_001275676.1:p.Arg368Lys
NM_001363.4:c.1103G>A	NP_001354.1:p.Arg368Lys
NR_110021.1:n.1804G>A
NR_110022.1:n.1923G>A
NR_110023.1:n.1697G>A
NM_001363.5:c.1103G>A MANE Select	NP_001354.1:p.Arg368Lys
NM_001142463.3:c.1103G>A	NP_001135935.1:p.Arg368Lys
NR_110021.2:n.1682G>A
NR_110022.2:n.1801G>A
NR_110023.2:n.1575G>A
NM_001288747.2:c.1103G>A	NP_001275676.1:p.Arg368Lys