Canonical Allele Identifier: CA316539581

Gene: DOK5

Linked Data

• dbSNP Id: rs1046853462
• gnomAD v2: 20-53266927-G-A
• gnomAD v3: 20-54650388-G-A
• gnomAD v4: 20-54650388-G-A
• MyVariant Identifiers: chr20:g.53266927G>A (hg19) ; chr20:g.54650388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650388G>A , CM000682.2:g.54650388G>A	GRCh38
NC_000020.10:g.53266927G>A , CM000682.1:g.53266927G>A	GRCh37
NC_000020.9:g.52700334G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.857-27G>A MANE Select	ENSP00000262593.5:n.857-27G>A
ENST00000262593.9:c.857-27G>A	ENSP00000262593.5:n.857-27G>A
ENST00000395939.5:c.533-27G>A	ENSP00000379270.1:n.533-27G>A
NM_018431.4:c.857-27G>A	NP_060901.2:n.857-27G>A
NM_177959.2:c.533-27G>A	NP_808874.1:n.533-27G>A
XM_011528903.1:c.821-27G>A	XP_011527205.1:n.821-27G>A
XM_011528904.1:c.533-27G>A	XP_011527206.1:n.533-27G>A
XM_024451946.1:c.821-27G>A	XP_024307714.1:n.821-27G>A
NM_018431.5:c.857-27G>A MANE Select	NP_060901.2:n.857-27G>A
NM_177959.3:c.533-27G>A	NP_808874.1:n.533-27G>A