Canonical Allele Identifier: CA409691506

Gene: DOK5

Linked Data

• gnomAD v4: 20-54650417-G-T
• MyVariant Identifiers: chr20:g.53266956G>T (hg19) ; chr20:g.54650417G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650417G>T , CM000682.2:g.54650417G>T	GRCh38
NC_000020.10:g.53266956G>T , CM000682.1:g.53266956G>T	GRCh37
NC_000020.9:g.52700363G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.859G>T MANE Select	ENSP00000262593.5:p.Val287Phe
ENST00000262593.9:c.859G>T	ENSP00000262593.5:p.Val287Phe
ENST00000395939.5:c.535G>T	ENSP00000379270.1:p.Val179Phe
NM_018431.4:c.859G>T	NP_060901.2:p.Val287Phe
NM_177959.2:c.535G>T	NP_808874.1:p.Val179Phe
XM_011528903.1:c.823G>T	XP_011527205.1:p.Val275Phe
XM_011528904.1:c.535G>T	XP_011527206.1:p.Val179Phe
XM_024451946.1:c.823G>T	XP_024307714.1:p.Val275Phe
NM_018431.5:c.859G>T MANE Select	NP_060901.2:p.Val287Phe
NM_177959.3:c.535G>T	NP_808874.1:p.Val179Phe