Canonical Allele Identifier: CA414895179

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001441T>A (hg19) ; chrX:g.154773166T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773166T>A , CM000685.2:g.154773166T>A	GRCh38
NC_000023.10:g.154001441T>A , CM000685.1:g.154001441T>A	GRCh37
NC_000023.9:g.153654635T>A	NCBI36
NG_009780.1:g.15411T>A , LRG_55:g.15411T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.952T>A	ENSP00000400542.2:p.Cys318Ser
ENST00000426673.6:c.*455T>A	ENSP00000407253.3:n.*455T>A
ENST00000484317.6:n.857T>A
ENST00000696575.1:c.1072T>A	ENSP00000512730.1:p.Cys358Ser
ENST00000696577.1:c.1072T>A	ENSP00000512731.1:p.Cys358Ser
ENST00000696578.1:c.*24T>A	ENSP00000512732.1:n.*24T>A
ENST00000696579.1:n.1174T>A
ENST00000696580.1:c.985T>A	ENSP00000512733.1:p.Cys329Ser
ENST00000696581.1:c.*1046T>A	ENSP00000512734.1:n.*1046T>A
ENST00000696582.1:c.*278T>A	ENSP00000512735.1:n.*278T>A
ENST00000696583.1:c.1033T>A	ENSP00000512736.1:p.Cys345Ser
ENST00000696584.1:n.1596T>A
ENST00000696585.1:n.1715T>A
ENST00000696586.1:n.1489T>A
ENST00000696587.1:c.952T>A	ENSP00000512737.1:p.Cys318Ser
ENST00000696588.1:c.463T>A	ENSP00000513251.1:p.Cys155Ser
ENST00000696589.1:n.847T>A
ENST00000696590.1:n.696T>A
ENST00000696591.1:n.421T>A
ENST00000696592.1:n.1951T>A
ENST00000696627.1:c.1072T>A	ENSP00000512764.1:p.Cys358Ser
ENST00000696628.1:c.1072T>A	ENSP00000512765.1:p.Cys358Ser
ENST00000369550.10:c.1072T>A MANE Select	ENSP00000358563.5:p.Cys358Ser
ENST00000369550.9:c.1072T>A	ENSP00000358563.5:p.Cys358Ser
ENST00000412124.5:c.330T>A
ENST00000426673.5:c.432T>A
ENST00000475966.1:n.561T>A
ENST00000481062.1:n.23T>A
ENST00000620277.4:c.1072T>A	ENSP00000478387.1:p.Cys358Ser
NM_001142463.2:c.1072T>A	NP_001135935.1:p.Cys358Ser
NM_001288747.1:c.1072T>A	NP_001275676.1:p.Cys358Ser
NM_001363.4:c.1072T>A	NP_001354.1:p.Cys358Ser
NR_110021.1:n.1773T>A
NR_110022.1:n.1892T>A
NR_110023.1:n.1666T>A
NM_001363.5:c.1072T>A MANE Select	NP_001354.1:p.Cys358Ser
NM_001142463.3:c.1072T>A	NP_001135935.1:p.Cys358Ser
NR_110021.2:n.1651T>A
NR_110022.2:n.1770T>A
NR_110023.2:n.1544T>A
NM_001288747.2:c.1072T>A	NP_001275676.1:p.Cys358Ser