Canonical Allele Identifier: CA409691617

Gene: DOK5

Linked Data

• MyVariant Identifiers: chr20:g.53267008C>T (hg19) ; chr20:g.54650469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.54650469C>T , CM000682.2:g.54650469C>T	GRCh38
NC_000020.10:g.53267008C>T , CM000682.1:g.53267008C>T	GRCh37
NC_000020.9:g.52700415C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262593.10:c.911C>T MANE Select	ENSP00000262593.5:p.Ser304Phe
ENST00000262593.9:c.911C>T	ENSP00000262593.5:p.Ser304Phe
ENST00000395939.5:c.587C>T	ENSP00000379270.1:p.Ser196Phe
NM_018431.4:c.911C>T	NP_060901.2:p.Ser304Phe
NM_177959.2:c.587C>T	NP_808874.1:p.Ser196Phe
XM_011528903.1:c.875C>T	XP_011527205.1:p.Ser292Phe
XM_011528904.1:c.587C>T	XP_011527206.1:p.Ser196Phe
XM_024451946.1:c.875C>T	XP_024307714.1:p.Ser292Phe
NM_018431.5:c.911C>T MANE Select	NP_060901.2:p.Ser304Phe
NM_177959.3:c.587C>T	NP_808874.1:p.Ser196Phe