Canonical Allele Identifier: CA409691519
Gene: DOK5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54650423A>C , CM000682.2:g.54650423A>C GRCh38
NC_000020.10:g.53266962A>C , CM000682.1:g.53266962A>C GRCh37
NC_000020.9:g.52700369A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262593.10:c.865A>C MANE Select ENSP00000262593.5:p.Ser289Arg
ENST00000262593.9:c.865A>C ENSP00000262593.5:p.Ser289Arg
ENST00000395939.5:c.541A>C ENSP00000379270.1:p.Ser181Arg
NM_018431.4:c.865A>C NP_060901.2:p.Ser289Arg
NM_177959.2:c.541A>C NP_808874.1:p.Ser181Arg
XM_011528903.1:c.829A>C XP_011527205.1:p.Ser277Arg
XM_011528904.1:c.541A>C XP_011527206.1:p.Ser181Arg
XM_024451946.1:c.829A>C XP_024307714.1:p.Ser277Arg
NM_018431.5:c.865A>C MANE Select NP_060901.2:p.Ser289Arg
NM_177959.3:c.541A>C NP_808874.1:p.Ser181Arg