Canonical Allele Identifier: CA745650048

Gene: DOK5

Linked Data

• dbSNP Id: rs1225134917
• gnomAD v3: 20-54650715-C-G
• gnomAD v4: 20-54650715-C-G
• MyVariant Identifiers: chr20:g.53267254C>G (hg19) ; chr20:g.54650715C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650715C>G , CM000682.2:g.54650715C>G	GRCh38
NC_000020.10:g.53267254C>G , CM000682.1:g.53267254C>G	GRCh37
NC_000020.9:g.52700661C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.*236C>G MANE Select	ENSP00000262593.5:n.*236C>G
ENST00000262593.9:c.*236C>G	ENSP00000262593.5:n.*236C>G
ENST00000395939.5:c.*236C>G	ENSP00000379270.1:n.*236C>G
NM_018431.4:c.*236C>G	NP_060901.2:n.*236C>G
NM_177959.2:c.*236C>G	NP_808874.1:n.*236C>G
XM_011528903.1:c.*236C>G	XP_011527205.1:n.*236C>G
XM_011528904.1:c.*236C>G	XP_011527206.1:n.*236C>G
XM_024451946.1:c.*236C>G	XP_024307714.1:n.*236C>G
NM_018431.5:c.*236C>G MANE Select	NP_060901.2:n.*236C>G
NM_177959.3:c.*236C>G	NP_808874.1:n.*236C>G