Canonical Allele Identifier: CA414895940

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001487G>C (hg19) ; chrX:g.154773212G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773212G>C , CM000685.2:g.154773212G>C	GRCh38
NC_000023.10:g.154001487G>C , CM000685.1:g.154001487G>C	GRCh37
NC_000023.9:g.153654681G>C	NCBI36
NG_009780.1:g.15457G>C , LRG_55:g.15457G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.998G>C	ENSP00000400542.2:p.Arg333Thr
ENST00000426673.6:c.*501G>C	ENSP00000407253.3:n.*501G>C
ENST00000484317.6:n.903G>C
ENST00000696575.1:c.1118G>C	ENSP00000512730.1:p.Arg373Thr
ENST00000696577.1:c.1118G>C	ENSP00000512731.1:p.Arg373Thr
ENST00000696578.1:c.*70G>C	ENSP00000512732.1:n.*70G>C
ENST00000696579.1:n.1220G>C
ENST00000696580.1:c.1031G>C	ENSP00000512733.1:p.Arg344Thr
ENST00000696581.1:c.*1092G>C	ENSP00000512734.1:n.*1092G>C
ENST00000696582.1:c.*324G>C	ENSP00000512735.1:n.*324G>C
ENST00000696583.1:c.1079G>C	ENSP00000512736.1:p.Arg360Thr
ENST00000696584.1:n.1642G>C
ENST00000696585.1:n.1761G>C
ENST00000696586.1:n.1535G>C
ENST00000696587.1:c.998G>C	ENSP00000512737.1:p.Arg333Thr
ENST00000696588.1:c.509G>C	ENSP00000513251.1:p.Arg170Thr
ENST00000696589.1:n.893G>C
ENST00000696590.1:n.742G>C
ENST00000696591.1:n.467G>C
ENST00000696592.1:n.1997G>C
ENST00000696627.1:c.1118G>C	ENSP00000512764.1:p.Arg373Thr
ENST00000696628.1:c.1118G>C	ENSP00000512765.1:p.Arg373Thr
ENST00000369550.10:c.1118G>C MANE Select	ENSP00000358563.5:p.Arg373Thr
ENST00000369550.9:c.1118G>C	ENSP00000358563.5:p.Arg373Thr
ENST00000412124.5:c.376G>C
ENST00000426673.5:c.478G>C
ENST00000475966.1:n.607G>C
ENST00000481062.1:n.69G>C
ENST00000620277.4:c.1118G>C	ENSP00000478387.1:p.Arg373Thr
NM_001142463.2:c.1118G>C	NP_001135935.1:p.Arg373Thr
NM_001288747.1:c.1118G>C	NP_001275676.1:p.Arg373Thr
NM_001363.4:c.1118G>C	NP_001354.1:p.Arg373Thr
NR_110021.1:n.1819G>C
NR_110022.1:n.1938G>C
NR_110023.1:n.1712G>C
NM_001363.5:c.1118G>C MANE Select	NP_001354.1:p.Arg373Thr
NM_001142463.3:c.1118G>C	NP_001135935.1:p.Arg373Thr
NR_110021.2:n.1697G>C
NR_110022.2:n.1816G>C
NR_110023.2:n.1590G>C
NM_001288747.2:c.1118G>C	NP_001275676.1:p.Arg373Thr