Canonical Allele Identifier: CA519357787

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001425A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773150A>C , CM000685.2:g.154773150A>C	GRCh38
NC_000023.10:g.154001425A>C , CM000685.1:g.154001425A>C	GRCh37
NC_000023.9:g.153654619A>C	NCBI36
NG_009780.1:g.15395A>C , LRG_55:g.15395A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.936A>C	ENSP00000400542.2:p.Thr312=
ENST00000426673.6:c.*439A>C	ENSP00000407253.3:n.*439A>C
ENST00000484317.6:n.841A>C
ENST00000696575.1:c.1056A>C	ENSP00000512730.1:p.Thr352=
ENST00000696577.1:c.1056A>C	ENSP00000512731.1:p.Thr352=
ENST00000696578.1:c.*8A>C	ENSP00000512732.1:n.*8A>C
ENST00000696579.1:n.1158A>C
ENST00000696580.1:c.969A>C	ENSP00000512733.1:p.Thr323=
ENST00000696581.1:c.*1030A>C	ENSP00000512734.1:n.*1030A>C
ENST00000696582.1:c.*262A>C	ENSP00000512735.1:n.*262A>C
ENST00000696583.1:c.1017A>C	ENSP00000512736.1:p.Thr339=
ENST00000696584.1:n.1580A>C
ENST00000696585.1:n.1699A>C
ENST00000696586.1:n.1473A>C
ENST00000696587.1:c.936A>C	ENSP00000512737.1:p.Thr312=
ENST00000696588.1:c.447A>C	ENSP00000513251.1:p.Thr149=
ENST00000696589.1:n.831A>C
ENST00000696590.1:n.680A>C
ENST00000696591.1:n.405A>C
ENST00000696592.1:n.1935A>C
ENST00000696627.1:c.1056A>C	ENSP00000512764.1:p.Thr352=
ENST00000696628.1:c.1056A>C	ENSP00000512765.1:p.Thr352=
ENST00000369550.10:c.1056A>C MANE Select	ENSP00000358563.5:p.Thr352=
ENST00000369550.9:c.1056A>C	ENSP00000358563.5:p.Thr352=
ENST00000412124.5:c.314A>C
ENST00000426673.5:c.416A>C
ENST00000475966.1:n.545A>C
ENST00000481062.1:n.7A>C
ENST00000620277.4:c.1056A>C	ENSP00000478387.1:p.Thr352=
NM_001142463.2:c.1056A>C	NP_001135935.1:p.Thr352=
NM_001288747.1:c.1056A>C	NP_001275676.1:p.Thr352=
NM_001363.4:c.1056A>C	NP_001354.1:p.Thr352=
NR_110021.1:n.1757A>C
NR_110022.1:n.1876A>C
NR_110023.1:n.1650A>C
NM_001363.5:c.1056A>C MANE Select	NP_001354.1:p.Thr352=
NM_001142463.3:c.1056A>C	NP_001135935.1:p.Thr352=
NR_110021.2:n.1635A>C
NR_110022.2:n.1754A>C
NR_110023.2:n.1528A>C
NM_001288747.2:c.1056A>C	NP_001275676.1:p.Thr352=