Canonical Allele Identifier: CA409691535

Gene: DOK5

Linked Data

• dbSNP Id: rs1979643362
• gnomAD v4: 20-54650430-T-A
• MyVariant Identifiers: chr20:g.53266969T>A (hg19) ; chr20:g.54650430T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650430T>A , CM000682.2:g.54650430T>A	GRCh38
NC_000020.10:g.53266969T>A , CM000682.1:g.53266969T>A	GRCh37
NC_000020.9:g.52700376T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.872T>A MANE Select	ENSP00000262593.5:p.Leu291Gln
ENST00000262593.9:c.872T>A	ENSP00000262593.5:p.Leu291Gln
ENST00000395939.5:c.548T>A	ENSP00000379270.1:p.Leu183Gln
NM_018431.4:c.872T>A	NP_060901.2:p.Leu291Gln
NM_177959.2:c.548T>A	NP_808874.1:p.Leu183Gln
XM_011528903.1:c.836T>A	XP_011527205.1:p.Leu279Gln
XM_011528904.1:c.548T>A	XP_011527206.1:p.Leu183Gln
XM_024451946.1:c.836T>A	XP_024307714.1:p.Leu279Gln
NM_018431.5:c.872T>A MANE Select	NP_060901.2:p.Leu291Gln
NM_177959.3:c.548T>A	NP_808874.1:p.Leu183Gln