Canonical Allele Identifier: CA316539597
Gene: DOK5 HGNC NCBI

Linked Data

dbSNP Id: rs917690108
gnomAD v4: 20-54650645-T-C
MyVariant Identifiers: chr20:g.53267184T>C (hg19) chr20:g.54650645T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54650645T>C , CM000682.2:g.54650645T>C GRCh38
NC_000020.10:g.53267184T>C , CM000682.1:g.53267184T>C GRCh37
NC_000020.9:g.52700591T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262593.10:c.*166T>C MANE Select ENSP00000262593.5:n.*166T>C
ENST00000262593.9:c.*166T>C ENSP00000262593.5:n.*166T>C
ENST00000395939.5:c.*166T>C ENSP00000379270.1:n.*166T>C
NM_018431.4:c.*166T>C NP_060901.2:n.*166T>C
NM_177959.2:c.*166T>C NP_808874.1:n.*166T>C
XM_011528903.1:c.*166T>C XP_011527205.1:n.*166T>C
XM_011528904.1:c.*166T>C XP_011527206.1:n.*166T>C
XM_024451946.1:c.*166T>C XP_024307714.1:n.*166T>C
NM_018431.5:c.*166T>C MANE Select NP_060901.2:n.*166T>C
NM_177959.3:c.*166T>C NP_808874.1:n.*166T>C
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