Canonical Allele Identifier: CA8474554
Gene: TAOK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3173784
ClinVar RCV Id: RCV004469081
dbSNP Id: rs143989572
ExAC: 17:27822600 G / A
gnomAD v2: 17-27822600-G-A
gnomAD v3: 17-29495582-G-A
gnomAD v4: 17-29495582-G-A
MyVariant Identifiers: chr17:g.27822600G>A (hg19) chr17:g.29495582G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29495582G>A , CM000679.2:g.29495582G>A GRCh38
NC_000017.10:g.27822600G>A , CM000679.1:g.27822600G>A GRCh37
NC_000017.9:g.24846726G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.854G>A MANE Select ENSP00000261716.3:p.Arg285His
ENST00000261716.7:c.854G>A ENSP00000261716.3:p.Arg285His
ENST00000536202.1:c.854G>A ENSP00000438819.1:p.Arg285His
ENST00000577583.1:n.702G>A
NM_020791.2:c.854G>A NP_065842.1:p.Arg285His
NM_025142.1:c.854G>A NP_079418.1:p.Arg285His
XM_011525060.1:c.854G>A XP_011523362.1:p.Arg285His
XM_011525060.2:c.854G>A XP_011523362.1:p.Arg285His
NM_020791.4:c.854G>A MANE Select NP_065842.1:p.Arg285His
Search 100 bp 5'
Search 100 bp 3'