Canonical Allele Identifier: CA414895962

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001490A>C (hg19) ; chrX:g.154773215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773215A>C , CM000685.2:g.154773215A>C	GRCh38
NC_000023.10:g.154001490A>C , CM000685.1:g.154001490A>C	GRCh37
NC_000023.9:g.153654684A>C	NCBI36
NG_009780.1:g.15460A>C , LRG_55:g.15460A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1001A>C	ENSP00000400542.2:p.Asp334Ala
ENST00000426673.6:c.*504A>C	ENSP00000407253.3:n.*504A>C
ENST00000484317.6:n.906A>C
ENST00000696575.1:c.1121A>C	ENSP00000512730.1:p.Asp374Ala
ENST00000696577.1:c.1121A>C	ENSP00000512731.1:p.Asp374Ala
ENST00000696578.1:c.*73A>C	ENSP00000512732.1:n.*73A>C
ENST00000696579.1:n.1223A>C
ENST00000696580.1:c.1034A>C	ENSP00000512733.1:p.Asp345Ala
ENST00000696581.1:c.*1095A>C	ENSP00000512734.1:n.*1095A>C
ENST00000696582.1:c.*327A>C	ENSP00000512735.1:n.*327A>C
ENST00000696583.1:c.1082A>C	ENSP00000512736.1:p.Asp361Ala
ENST00000696584.1:n.1645A>C
ENST00000696585.1:n.1764A>C
ENST00000696586.1:n.1538A>C
ENST00000696587.1:c.1001A>C	ENSP00000512737.1:p.Asp334Ala
ENST00000696588.1:c.512A>C	ENSP00000513251.1:p.Asp171Ala
ENST00000696589.1:n.896A>C
ENST00000696590.1:n.745A>C
ENST00000696591.1:n.470A>C
ENST00000696592.1:n.2000A>C
ENST00000696627.1:c.1121A>C	ENSP00000512764.1:p.Asp374Ala
ENST00000696628.1:c.1121A>C	ENSP00000512765.1:p.Asp374Ala
ENST00000369550.10:c.1121A>C MANE Select	ENSP00000358563.5:p.Asp374Ala
ENST00000369550.9:c.1121A>C	ENSP00000358563.5:p.Asp374Ala
ENST00000412124.5:c.379A>C
ENST00000426673.5:c.481A>C
ENST00000475966.1:n.610A>C
ENST00000481062.1:n.72A>C
ENST00000620277.4:c.1121A>C	ENSP00000478387.1:p.Asp374Ala
NM_001142463.2:c.1121A>C	NP_001135935.1:p.Asp374Ala
NM_001288747.1:c.1121A>C	NP_001275676.1:p.Asp374Ala
NM_001363.4:c.1121A>C	NP_001354.1:p.Asp374Ala
NR_110021.1:n.1822A>C
NR_110022.1:n.1941A>C
NR_110023.1:n.1715A>C
NM_001363.5:c.1121A>C MANE Select	NP_001354.1:p.Asp374Ala
NM_001142463.3:c.1121A>C	NP_001135935.1:p.Asp374Ala
NR_110021.2:n.1700A>C
NR_110022.2:n.1819A>C
NR_110023.2:n.1593A>C
NM_001288747.2:c.1121A>C	NP_001275676.1:p.Asp374Ala