Canonical Allele Identifier: CA2554046094
Gene: DKC1 HGNC NCBI

Linked Data

gnomAD v4: X-154762750-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154762750C>T , CM000685.2:g.154762750C>T GRCh38
NC_000023.10:g.153991025C>T , CM000685.1:g.153991025C>T GRCh37
NC_000023.9:g.153644219C>T NCBI36
NG_009780.1:g.4995C>T , LRG_55:g.4995C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000620277.4:c.-216C>T ENSP00000478387.1:n.-216C>T
NM_001142463.2:c.-216C>T NP_001135935.1:n.-216C>T
NM_001288747.1:c.-216C>T NP_001275676.1:n.-216C>T
NM_001363.4:c.-216C>T NP_001354.1:n.-216C>T
NR_110021.1:n.9C>T
NR_110022.1:n.9C>T
NR_110023.1:n.9C>T
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