Canonical Allele Identifier: CA409691579
Gene: DOK5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.54650451C>T , CM000682.2:g.54650451C>T GRCh38
NC_000020.10:g.53266990C>T , CM000682.1:g.53266990C>T GRCh37
NC_000020.9:g.52700397C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262593.10:c.893C>T MANE Select ENSP00000262593.5:p.Thr298Ile
ENST00000262593.9:c.893C>T ENSP00000262593.5:p.Thr298Ile
ENST00000395939.5:c.569C>T ENSP00000379270.1:p.Thr190Ile
NM_018431.4:c.893C>T NP_060901.2:p.Thr298Ile
NM_177959.2:c.569C>T NP_808874.1:p.Thr190Ile
XM_011528903.1:c.857C>T XP_011527205.1:p.Thr286Ile
XM_011528904.1:c.569C>T XP_011527206.1:p.Thr190Ile
XM_024451946.1:c.857C>T XP_024307714.1:p.Thr286Ile
NM_018431.5:c.893C>T MANE Select NP_060901.2:p.Thr298Ile
NM_177959.3:c.569C>T NP_808874.1:p.Thr190Ile