Canonical Allele Identifier: CA409691585
Gene: DOK5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54650454T>G , CM000682.2:g.54650454T>G GRCh38
NC_000020.10:g.53266993T>G , CM000682.1:g.53266993T>G GRCh37
NC_000020.9:g.52700400T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262593.10:c.896T>G MANE Select ENSP00000262593.5:p.Phe299Cys
ENST00000262593.9:c.896T>G ENSP00000262593.5:p.Phe299Cys
ENST00000395939.5:c.572T>G ENSP00000379270.1:p.Phe191Cys
NM_018431.4:c.896T>G NP_060901.2:p.Phe299Cys
NM_177959.2:c.572T>G NP_808874.1:p.Phe191Cys
XM_011528903.1:c.860T>G XP_011527205.1:p.Phe287Cys
XM_011528904.1:c.572T>G XP_011527206.1:p.Phe191Cys
XM_024451946.1:c.860T>G XP_024307714.1:p.Phe287Cys
NM_018431.5:c.896T>G MANE Select NP_060901.2:p.Phe299Cys
NM_177959.3:c.572T>G NP_808874.1:p.Phe191Cys