Canonical Allele Identifier: CA409691629

Gene: DOK5

Linked Data

• gnomAD v4: 20-54650474-C-G
• MyVariant Identifiers: chr20:g.53267013C>G (hg19) ; chr20:g.54650474C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650474C>G , CM000682.2:g.54650474C>G	GRCh38
NC_000020.10:g.53267013C>G , CM000682.1:g.53267013C>G	GRCh37
NC_000020.9:g.52700420C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.916C>G MANE Select	ENSP00000262593.5:p.His306Asp
ENST00000262593.9:c.916C>G	ENSP00000262593.5:p.His306Asp
ENST00000395939.5:c.592C>G	ENSP00000379270.1:p.His198Asp
NM_018431.4:c.916C>G	NP_060901.2:p.His306Asp
NM_177959.2:c.592C>G	NP_808874.1:p.His198Asp
XM_011528903.1:c.880C>G	XP_011527205.1:p.His294Asp
XM_011528904.1:c.592C>G	XP_011527206.1:p.His198Asp
XM_024451946.1:c.880C>G	XP_024307714.1:p.His294Asp
NM_018431.5:c.916C>G MANE Select	NP_060901.2:p.His306Asp
NM_177959.3:c.592C>G	NP_808874.1:p.His198Asp