Canonical Allele Identifier: CA2653399295
Gene: DOK5 HGNC NCBI

Linked Data

gnomAD v4: 20-54650749-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54650749G>C , CM000682.2:g.54650749G>C GRCh38
NC_000020.10:g.53267288G>C , CM000682.1:g.53267288G>C GRCh37
NC_000020.9:g.52700695G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262593.10:c.*270G>C MANE Select ENSP00000262593.5:n.*270G>C
ENST00000262593.9:c.*270G>C ENSP00000262593.5:n.*270G>C
ENST00000395939.5:c.*270G>C ENSP00000379270.1:n.*270G>C
NM_018431.4:c.*270G>C NP_060901.2:n.*270G>C
NM_177959.2:c.*270G>C NP_808874.1:n.*270G>C
XM_011528903.1:c.*270G>C XP_011527205.1:n.*270G>C
XM_011528904.1:c.*270G>C XP_011527206.1:n.*270G>C
XM_024451946.1:c.*270G>C XP_024307714.1:n.*270G>C
NM_018431.5:c.*270G>C MANE Select NP_060901.2:n.*270G>C
NM_177959.3:c.*270G>C NP_808874.1:n.*270G>C
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