Canonical Allele Identifier: CA316539619

Gene: DOK5

Linked Data

• dbSNP Id: rs78439370
• gnomAD v2: 20-53267317-C-T
• gnomAD v3: 20-54650778-C-T
• gnomAD v4: 20-54650778-C-T
• MyVariant Identifiers: chr20:g.53267317C>T (hg19) ; chr20:g.54650778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650778C>T , CM000682.2:g.54650778C>T	GRCh38
NC_000020.10:g.53267317C>T , CM000682.1:g.53267317C>T	GRCh37
NC_000020.9:g.52700724C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.*299C>T MANE Select	ENSP00000262593.5:n.*299C>T
ENST00000262593.9:c.*299C>T	ENSP00000262593.5:n.*299C>T
ENST00000395939.5:c.*299C>T	ENSP00000379270.1:n.*299C>T
NM_018431.4:c.*299C>T	NP_060901.2:n.*299C>T
NM_177959.2:c.*299C>T	NP_808874.1:n.*299C>T
XM_011528903.1:c.*299C>T	XP_011527205.1:n.*299C>T
XM_011528904.1:c.*299C>T	XP_011527206.1:n.*299C>T
XM_024451946.1:c.*299C>T	XP_024307714.1:n.*299C>T
NM_018431.5:c.*299C>T MANE Select	NP_060901.2:n.*299C>T
NM_177959.3:c.*299C>T	NP_808874.1:n.*299C>T