Canonical Allele Identifier: CA519357953

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001512T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773237T>C , CM000685.2:g.154773237T>C	GRCh38
NC_000023.10:g.154001512T>C , CM000685.1:g.154001512T>C	GRCh37
NC_000023.9:g.153654706T>C	NCBI36
NG_009780.1:g.15482T>C , LRG_55:g.15482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1023T>C	ENSP00000400542.2:p.Gly341=
ENST00000426673.6:c.*526T>C	ENSP00000407253.3:n.*526T>C
ENST00000484317.6:n.928T>C
ENST00000696575.1:c.1143T>C	ENSP00000512730.1:p.Gly381=
ENST00000696577.1:c.1143T>C	ENSP00000512731.1:p.Gly381=
ENST00000696578.1:c.*95T>C	ENSP00000512732.1:n.*95T>C
ENST00000696579.1:n.1245T>C
ENST00000696580.1:c.1056T>C	ENSP00000512733.1:p.Gly352=
ENST00000696581.1:c.*1117T>C	ENSP00000512734.1:n.*1117T>C
ENST00000696582.1:c.*349T>C	ENSP00000512735.1:n.*349T>C
ENST00000696583.1:c.1104T>C	ENSP00000512736.1:p.Gly368=
ENST00000696584.1:n.1667T>C
ENST00000696585.1:n.1786T>C
ENST00000696586.1:n.1560T>C
ENST00000696587.1:c.1023T>C	ENSP00000512737.1:p.Gly341=
ENST00000696588.1:c.534T>C	ENSP00000513251.1:p.Gly178=
ENST00000696589.1:n.918T>C
ENST00000696590.1:n.767T>C
ENST00000696591.1:n.492T>C
ENST00000696592.1:n.2022T>C
ENST00000696627.1:c.1143T>C	ENSP00000512764.1:p.Gly381=
ENST00000696628.1:c.1143T>C	ENSP00000512765.1:p.Gly381=
ENST00000369550.10:c.1143T>C MANE Select	ENSP00000358563.5:p.Gly381=
ENST00000369550.9:c.1143T>C	ENSP00000358563.5:p.Gly381=
ENST00000412124.5:c.401T>C
ENST00000426673.5:c.503T>C
ENST00000475966.1:n.632T>C
ENST00000481062.1:n.94T>C
ENST00000620277.4:c.1143T>C	ENSP00000478387.1:p.Gly381=
NM_001142463.2:c.1143T>C	NP_001135935.1:p.Gly381=
NM_001288747.1:c.1143T>C	NP_001275676.1:p.Gly381=
NM_001363.4:c.1143T>C	NP_001354.1:p.Gly381=
NR_110021.1:n.1844T>C
NR_110022.1:n.1963T>C
NR_110023.1:n.1737T>C
NM_001363.5:c.1143T>C MANE Select	NP_001354.1:p.Gly381=
NM_001142463.3:c.1143T>C	NP_001135935.1:p.Gly381=
NR_110021.2:n.1722T>C
NR_110022.2:n.1841T>C
NR_110023.2:n.1615T>C
NM_001288747.2:c.1143T>C	NP_001275676.1:p.Gly381=