Canonical Allele Identifier: CA399193535
Gene: TAOK1 HGNC NCBI

Linked Data

gnomAD v4: 17-29495562-C-A
MyVariant Identifiers: chr17:g.27822580C>A (hg19) chr17:g.29495562C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29495562C>A , CM000679.2:g.29495562C>A GRCh38
NC_000017.10:g.27822580C>A , CM000679.1:g.27822580C>A GRCh37
NC_000017.9:g.24846706C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.834C>A MANE Select ENSP00000261716.3:p.His278Gln
ENST00000261716.7:c.834C>A ENSP00000261716.3:p.His278Gln
ENST00000536202.1:c.834C>A ENSP00000438819.1:p.His278Gln
ENST00000577583.1:n.682C>A
NM_020791.2:c.834C>A NP_065842.1:p.His278Gln
NM_025142.1:c.834C>A NP_079418.1:p.His278Gln
XM_011525060.1:c.834C>A XP_011523362.1:p.His278Gln
XM_011525060.2:c.834C>A XP_011523362.1:p.His278Gln
NM_020791.4:c.834C>A MANE Select NP_065842.1:p.His278Gln
Search 100 bp 5'
Search 100 bp 3'