Canonical Allele Identifier: CA519357792

Gene: DKC1

Linked Data

• ClinVar Variation Id: 2730190
• ClinVar RCV Id: RCV003530860
• dbSNP Id: rs375274293
• gnomAD v2: X-154001428-G-C
• gnomAD v4: X-154773153-G-C
• MyVariant Identifiers: chrX:g.154001428G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773153G>C , CM000685.2:g.154773153G>C	GRCh38
NC_000023.10:g.154001428G>C , CM000685.1:g.154001428G>C	GRCh37
NC_000023.9:g.153654622G>C	NCBI36
NG_009780.1:g.15398G>C , LRG_55:g.15398G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.939G>C	ENSP00000400542.2:p.Ala313=
ENST00000426673.6:c.*442G>C	ENSP00000407253.3:n.*442G>C
ENST00000484317.6:n.844G>C
ENST00000696575.1:c.1059G>C	ENSP00000512730.1:p.Ala353=
ENST00000696577.1:c.1059G>C	ENSP00000512731.1:p.Ala353=
ENST00000696578.1:c.*11G>C	ENSP00000512732.1:n.*11G>C
ENST00000696579.1:n.1161G>C
ENST00000696580.1:c.972G>C	ENSP00000512733.1:p.Ala324=
ENST00000696581.1:c.*1033G>C	ENSP00000512734.1:n.*1033G>C
ENST00000696582.1:c.*265G>C	ENSP00000512735.1:n.*265G>C
ENST00000696583.1:c.1020G>C	ENSP00000512736.1:p.Ala340=
ENST00000696584.1:n.1583G>C
ENST00000696585.1:n.1702G>C
ENST00000696586.1:n.1476G>C
ENST00000696587.1:c.939G>C	ENSP00000512737.1:p.Ala313=
ENST00000696588.1:c.450G>C	ENSP00000513251.1:p.Ala150=
ENST00000696589.1:n.834G>C
ENST00000696590.1:n.683G>C
ENST00000696591.1:n.408G>C
ENST00000696592.1:n.1938G>C
ENST00000696627.1:c.1059G>C	ENSP00000512764.1:p.Ala353=
ENST00000696628.1:c.1059G>C	ENSP00000512765.1:p.Ala353=
ENST00000369550.10:c.1059G>C MANE Select	ENSP00000358563.5:p.Ala353=
ENST00000369550.9:c.1059G>C	ENSP00000358563.5:p.Ala353=
ENST00000412124.5:c.317G>C
ENST00000426673.5:c.419G>C
ENST00000475966.1:n.548G>C
ENST00000481062.1:n.10G>C
ENST00000620277.4:c.1059G>C	ENSP00000478387.1:p.Ala353=
NM_001142463.2:c.1059G>C	NP_001135935.1:p.Ala353=
NM_001288747.1:c.1059G>C	NP_001275676.1:p.Ala353=
NM_001363.4:c.1059G>C	NP_001354.1:p.Ala353=
NR_110021.1:n.1760G>C
NR_110022.1:n.1879G>C
NR_110023.1:n.1653G>C
NM_001363.5:c.1059G>C MANE Select	NP_001354.1:p.Ala353=
NM_001142463.3:c.1059G>C	NP_001135935.1:p.Ala353=
NR_110021.2:n.1638G>C
NR_110022.2:n.1757G>C
NR_110023.2:n.1531G>C
NM_001288747.2:c.1059G>C	NP_001275676.1:p.Ala353=