Canonical Allele Identifier: CA519357978

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001521A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773246A>C , CM000685.2:g.154773246A>C	GRCh38
NC_000023.10:g.154001521A>C , CM000685.1:g.154001521A>C	GRCh37
NC_000023.9:g.153654715A>C	NCBI36
NG_009780.1:g.15491A>C , LRG_55:g.15491A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1032A>C	ENSP00000400542.2:p.Pro344=
ENST00000426673.6:c.*535A>C	ENSP00000407253.3:n.*535A>C
ENST00000484317.6:n.937A>C
ENST00000696575.1:c.1152A>C	ENSP00000512730.1:p.Pro384=
ENST00000696577.1:c.1152A>C	ENSP00000512731.1:p.Pro384=
ENST00000696578.1:c.*104A>C	ENSP00000512732.1:n.*104A>C
ENST00000696579.1:n.1254A>C
ENST00000696580.1:c.1065A>C	ENSP00000512733.1:p.Pro355=
ENST00000696581.1:c.*1126A>C	ENSP00000512734.1:n.*1126A>C
ENST00000696582.1:c.*358A>C	ENSP00000512735.1:n.*358A>C
ENST00000696583.1:c.1113A>C	ENSP00000512736.1:p.Pro371=
ENST00000696584.1:n.1676A>C
ENST00000696585.1:n.1795A>C
ENST00000696586.1:n.1569A>C
ENST00000696587.1:c.1032A>C	ENSP00000512737.1:p.Pro344=
ENST00000696588.1:c.543A>C	ENSP00000513251.1:p.Pro181=
ENST00000696589.1:n.927A>C
ENST00000696590.1:n.776A>C
ENST00000696591.1:n.501A>C
ENST00000696592.1:n.2031A>C
ENST00000696627.1:c.1152A>C	ENSP00000512764.1:p.Pro384=
ENST00000696628.1:c.1152A>C	ENSP00000512765.1:p.Pro384=
ENST00000369550.10:c.1152A>C MANE Select	ENSP00000358563.5:p.Pro384=
ENST00000369550.9:c.1152A>C	ENSP00000358563.5:p.Pro384=
ENST00000412124.5:c.410A>C
ENST00000426673.5:c.512A>C
ENST00000475966.1:n.641A>C
ENST00000481062.1:n.103A>C
ENST00000620277.4:c.1152A>C	ENSP00000478387.1:p.Pro384=
NM_001142463.2:c.1152A>C	NP_001135935.1:p.Pro384=
NM_001288747.1:c.1152A>C	NP_001275676.1:p.Pro384=
NM_001363.4:c.1152A>C	NP_001354.1:p.Pro384=
NR_110021.1:n.1853A>C
NR_110022.1:n.1972A>C
NR_110023.1:n.1746A>C
NM_001363.5:c.1152A>C MANE Select	NP_001354.1:p.Pro384=
NM_001142463.3:c.1152A>C	NP_001135935.1:p.Pro384=
NR_110021.2:n.1731A>C
NR_110022.2:n.1850A>C
NR_110023.2:n.1624A>C
NM_001288747.2:c.1152A>C	NP_001275676.1:p.Pro384=