Canonical Allele Identifier: CA2653399212
Gene: DOK5 HGNC NCBI

Linked Data

gnomAD v4: 20-54650597-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54650597C>A , CM000682.2:g.54650597C>A GRCh38
NC_000020.10:g.53267136C>A , CM000682.1:g.53267136C>A GRCh37
NC_000020.9:g.52700543C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262593.10:c.*118C>A MANE Select ENSP00000262593.5:n.*118C>A
ENST00000262593.9:c.*118C>A ENSP00000262593.5:n.*118C>A
ENST00000395939.5:c.*118C>A ENSP00000379270.1:n.*118C>A
NM_018431.4:c.*118C>A NP_060901.2:n.*118C>A
NM_177959.2:c.*118C>A NP_808874.1:n.*118C>A
XM_011528903.1:c.*118C>A XP_011527205.1:n.*118C>A
XM_011528904.1:c.*118C>A XP_011527206.1:n.*118C>A
XM_024451946.1:c.*118C>A XP_024307714.1:n.*118C>A
NM_018431.5:c.*118C>A MANE Select NP_060901.2:n.*118C>A
NM_177959.3:c.*118C>A NP_808874.1:n.*118C>A
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