Canonical Allele Identifier: CA398917053
Gene: TAOK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2663224
ClinVar RCV Id: RCV003442412
MyVariant Identifiers: chr17:g.27861171G>C (hg19) chr17:g.29534153G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29534153G>C , CM000679.2:g.29534153G>C GRCh38
NC_000017.10:g.27861171G>C , CM000679.1:g.27861171G>C GRCh37
NC_000017.9:g.24885297G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.2397G>C MANE Select ENSP00000261716.3:p.Gln799His
ENST00000261716.7:c.2397G>C ENSP00000261716.3:p.Gln799His
ENST00000536202.1:c.1953G>C ENSP00000438819.1:p.Gln651His
NM_020791.2:c.2397G>C NP_065842.1:p.Gln799His
NM_025142.1:c.1953G>C NP_079418.1:p.Gln651His
XM_011525060.1:c.2397G>C XP_011523362.1:p.Gln799His
XM_011525060.2:c.2397G>C XP_011523362.1:p.Gln799His
NM_020791.4:c.2397G>C MANE Select NP_065842.1:p.Gln799His
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