Canonical Allele Identifier: CA399196867
Gene: TAOK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29510984C>A , CM000679.2:g.29510984C>A GRCh38
NC_000017.10:g.27838002C>A , CM000679.1:g.27838002C>A GRCh37
NC_000017.9:g.24862128C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.1696C>A MANE Select ENSP00000261716.3:p.Leu566Ile
ENST00000261716.7:c.1696C>A ENSP00000261716.3:p.Leu566Ile
ENST00000536202.1:c.1696C>A ENSP00000438819.1:p.Leu566Ile
ENST00000577583.1:n.1544C>A
NM_020791.2:c.1696C>A NP_065842.1:p.Leu566Ile
NM_025142.1:c.1696C>A NP_079418.1:p.Leu566Ile
XM_011525060.1:c.1696C>A XP_011523362.1:p.Leu566Ile
XM_011525060.2:c.1696C>A XP_011523362.1:p.Leu566Ile
NM_020791.4:c.1696C>A MANE Select NP_065842.1:p.Leu566Ile