Canonical Allele Identifier: CA414895052

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001427C>A (hg19) ; chrX:g.154773152C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773152C>A , CM000685.2:g.154773152C>A	GRCh38
NC_000023.10:g.154001427C>A , CM000685.1:g.154001427C>A	GRCh37
NC_000023.9:g.153654621C>A	NCBI36
NG_009780.1:g.15397C>A , LRG_55:g.15397C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.938C>A	ENSP00000400542.2:p.Ala313Glu
ENST00000426673.6:c.*441C>A	ENSP00000407253.3:n.*441C>A
ENST00000484317.6:n.843C>A
ENST00000696575.1:c.1058C>A	ENSP00000512730.1:p.Ala353Glu
ENST00000696577.1:c.1058C>A	ENSP00000512731.1:p.Ala353Glu
ENST00000696578.1:c.*10C>A	ENSP00000512732.1:n.*10C>A
ENST00000696579.1:n.1160C>A
ENST00000696580.1:c.971C>A	ENSP00000512733.1:p.Ala324Glu
ENST00000696581.1:c.*1032C>A	ENSP00000512734.1:n.*1032C>A
ENST00000696582.1:c.*264C>A	ENSP00000512735.1:n.*264C>A
ENST00000696583.1:c.1019C>A	ENSP00000512736.1:p.Ala340Glu
ENST00000696584.1:n.1582C>A
ENST00000696585.1:n.1701C>A
ENST00000696586.1:n.1475C>A
ENST00000696587.1:c.938C>A	ENSP00000512737.1:p.Ala313Glu
ENST00000696588.1:c.449C>A	ENSP00000513251.1:p.Ala150Glu
ENST00000696589.1:n.833C>A
ENST00000696590.1:n.682C>A
ENST00000696591.1:n.407C>A
ENST00000696592.1:n.1937C>A
ENST00000696627.1:c.1058C>A	ENSP00000512764.1:p.Ala353Glu
ENST00000696628.1:c.1058C>A	ENSP00000512765.1:p.Ala353Glu
ENST00000369550.10:c.1058C>A MANE Select	ENSP00000358563.5:p.Ala353Glu
ENST00000369550.9:c.1058C>A	ENSP00000358563.5:p.Ala353Glu
ENST00000412124.5:c.316C>A
ENST00000426673.5:c.418C>A
ENST00000475966.1:n.547C>A
ENST00000481062.1:n.9C>A
ENST00000620277.4:c.1058C>A	ENSP00000478387.1:p.Ala353Glu
NM_001142463.2:c.1058C>A	NP_001135935.1:p.Ala353Glu
NM_001288747.1:c.1058C>A	NP_001275676.1:p.Ala353Glu
NM_001363.4:c.1058C>A	NP_001354.1:p.Ala353Glu
NR_110021.1:n.1759C>A
NR_110022.1:n.1878C>A
NR_110023.1:n.1652C>A
NM_001363.5:c.1058C>A MANE Select	NP_001354.1:p.Ala353Glu
NM_001142463.3:c.1058C>A	NP_001135935.1:p.Ala353Glu
NR_110021.2:n.1637C>A
NR_110022.2:n.1756C>A
NR_110023.2:n.1530C>A
NM_001288747.2:c.1058C>A	NP_001275676.1:p.Ala353Glu