Canonical Allele Identifier: CA499151693
Gene: TAOK1 HGNC NCBI

Linked Data

dbSNP Id: rs1297029373
gnomAD v2: 17-27857520-A-C
gnomAD v3: 17-29530502-A-C
gnomAD v4: 17-29530502-A-C
MyVariant Identifiers: chr17:g.27857520A>C (hg19) chr17:g.29530502A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29530502A>C , CM000679.2:g.29530502A>C GRCh38
NC_000017.10:g.27857520A>C , CM000679.1:g.27857520A>C GRCh37
NC_000017.9:g.24881646A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.2244A>C MANE Select ENSP00000261716.3:p.Thr748=
ENST00000261716.7:c.2244A>C ENSP00000261716.3:p.Thr748=
ENST00000536202.1:c.1800A>C ENSP00000438819.1:p.Thr600=
ENST00000578653.1:n.328A>C
NM_020791.2:c.2244A>C NP_065842.1:p.Thr748=
NM_025142.1:c.1800A>C NP_079418.1:p.Thr600=
XM_011525060.1:c.2244A>C XP_011523362.1:p.Thr748=
XM_011525060.2:c.2244A>C XP_011523362.1:p.Thr748=
NM_020791.4:c.2244A>C MANE Select NP_065842.1:p.Thr748=
Search 100 bp 5'
Search 100 bp 3'