Canonical Allele Identifier: CA636385525

Gene: DOK5

Linked Data

• dbSNP Id: rs1411334273
• gnomAD v2: 20-53267305-T-C
• gnomAD v3: 20-54650766-T-C
• gnomAD v4: 20-54650766-T-C
• MyVariant Identifiers: chr20:g.53267305T>C (hg19) ; chr20:g.54650766T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650766T>C , CM000682.2:g.54650766T>C	GRCh38
NC_000020.10:g.53267305T>C , CM000682.1:g.53267305T>C	GRCh37
NC_000020.9:g.52700712T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.*287T>C MANE Select	ENSP00000262593.5:n.*287T>C
ENST00000262593.9:c.*287T>C	ENSP00000262593.5:n.*287T>C
ENST00000395939.5:c.*287T>C	ENSP00000379270.1:n.*287T>C
NM_018431.4:c.*287T>C	NP_060901.2:n.*287T>C
NM_177959.2:c.*287T>C	NP_808874.1:n.*287T>C
XM_011528903.1:c.*287T>C	XP_011527205.1:n.*287T>C
XM_011528904.1:c.*287T>C	XP_011527206.1:n.*287T>C
XM_024451946.1:c.*287T>C	XP_024307714.1:n.*287T>C
NM_018431.5:c.*287T>C MANE Select	NP_060901.2:n.*287T>C
NM_177959.3:c.*287T>C	NP_808874.1:n.*287T>C