Canonical Allele Identifier: CA10567150

Gene: DKC1

Linked Data

• ClinVar Variation Id: 1103605
• ClinVar RCV Id: RCV002414013
• dbSNP Id: rs375274293
• ExAC: X:154001428 G / A
• gnomAD v2: X-154001428-G-A
• gnomAD v3: X-154773153-G-A
• gnomAD v4: X-154773153-G-A
• MyVariant Identifiers: chrX:g.154001428G>A (hg19) ; chrX:g.154773153G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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