Canonical Allele Identifier: CA636385424

Gene: DOK5

Linked Data

• dbSNP Id: rs1193959168
• gnomAD v2: 20-53266922-T-C
• gnomAD v3: 20-54650383-T-C
• gnomAD v4: 20-54650383-T-C
• MyVariant Identifiers: chr20:g.53266922T>C (hg19) ; chr20:g.54650383T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650383T>C , CM000682.2:g.54650383T>C	GRCh38
NC_000020.10:g.53266922T>C , CM000682.1:g.53266922T>C	GRCh37
NC_000020.9:g.52700329T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.857-32T>C MANE Select	ENSP00000262593.5:n.857-32T>C
ENST00000262593.9:c.857-32T>C	ENSP00000262593.5:n.857-32T>C
ENST00000395939.5:c.533-32T>C	ENSP00000379270.1:n.533-32T>C
NM_018431.4:c.857-32T>C	NP_060901.2:n.857-32T>C
NM_177959.2:c.533-32T>C	NP_808874.1:n.533-32T>C
XM_011528903.1:c.821-32T>C	XP_011527205.1:n.821-32T>C
XM_011528904.1:c.533-32T>C	XP_011527206.1:n.533-32T>C
XM_024451946.1:c.821-32T>C	XP_024307714.1:n.821-32T>C
NM_018431.5:c.857-32T>C MANE Select	NP_060901.2:n.857-32T>C
NM_177959.3:c.533-32T>C	NP_808874.1:n.533-32T>C