Canonical Allele Identifier: CA337305081

Gene: DKC1

Linked Data

• ClinVar Variation Id: 434940
• ClinVar RCV Id: RCV000501610
• dbSNP Id: rs782436792
• gnomAD v2: X-153991167-G-A
• gnomAD v3: X-154762892-G-A
• gnomAD v4: X-154762892-G-A
• MyVariant Identifiers: chrX:g.153991167G>A (hg19) ; chrX:g.154762892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154762892G>A , CM000685.2:g.154762892G>A	GRCh38
NC_000023.10:g.153991167G>A , CM000685.1:g.153991167G>A	GRCh37
NC_000023.9:g.153644361G>A	NCBI36
NG_009780.1:g.5137G>A , LRG_55:g.5137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.-74G>A	ENSP00000400542.2:n.-74G>A
ENST00000426673.6:c.-74G>A	ENSP00000407253.3:n.-74G>A
ENST00000696575.1:c.-74G>A	ENSP00000512730.1:n.-74G>A
ENST00000696576.1:n.29G>A
ENST00000696577.1:c.-74G>A	ENSP00000512731.1:n.-74G>A
ENST00000696578.1:c.-74G>A	ENSP00000512732.1:n.-74G>A
ENST00000696579.1:n.29G>A
ENST00000696580.1:c.-74G>A	ENSP00000512733.1:n.-74G>A
ENST00000696581.1:c.-74G>A	ENSP00000512734.1:n.-74G>A
ENST00000696582.1:c.-74G>A	ENSP00000512735.1:n.-74G>A
ENST00000696583.1:c.-74G>A	ENSP00000512736.1:n.-74G>A
ENST00000369550.10:c.-74G>A MANE Select	ENSP00000358563.5:n.-74G>A
ENST00000369550.9:c.-74G>A	ENSP00000358563.5:n.-74G>A
ENST00000413910.5:c.-74G>A	ENSP00000400542.1:n.-74G>A
ENST00000475423.1:n.41G>A
ENST00000620277.4:c.-74G>A	ENSP00000478387.1:n.-74G>A
NM_001142463.2:c.-74G>A	NP_001135935.1:n.-74G>A
NM_001288747.1:c.-74G>A	NP_001275676.1:n.-74G>A
NM_001363.4:c.-74G>A	NP_001354.1:n.-74G>A
NR_110021.1:n.151G>A
NR_110022.1:n.151G>A
NR_110023.1:n.151G>A
NM_001363.5:c.-74G>A MANE Select	NP_001354.1:n.-74G>A
NM_001142463.3:c.-74G>A	NP_001135935.1:n.-74G>A
NR_110021.2:n.29G>A
NR_110022.2:n.29G>A
NR_110023.2:n.29G>A
NM_001288747.2:c.-74G>A	NP_001275676.1:n.-74G>A