Canonical Allele Identifier: CA289201800
Gene: TAOK1 HGNC NCBI

Linked Data

dbSNP Id: rs536362779
gnomAD v2: 17-27860953-C-T
gnomAD v3: 17-29533935-C-T
gnomAD v4: 17-29533935-C-T
MyVariant Identifiers: chr17:g.27860953C>T (hg19) chr17:g.29533935C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29533935C>T , CM000679.2:g.29533935C>T GRCh38
NC_000017.10:g.27860953C>T , CM000679.1:g.27860953C>T GRCh37
NC_000017.9:g.24885079C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.2362-183C>T MANE Select ENSP00000261716.3:n.2362-183C>T
ENST00000261716.7:c.2362-183C>T ENSP00000261716.3:n.2362-183C>T
ENST00000536202.1:c.1918-183C>T ENSP00000438819.1:n.1918-183C>T
NM_020791.2:c.2362-183C>T NP_065842.1:n.2362-183C>T
NM_025142.1:c.1918-183C>T NP_079418.1:n.1918-183C>T
XM_011525060.1:c.2362-183C>T XP_011523362.1:n.2362-183C>T
XM_011525060.2:c.2362-183C>T XP_011523362.1:n.2362-183C>T
NM_020791.4:c.2362-183C>T MANE Select NP_065842.1:n.2362-183C>T
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