Canonical Allele Identifier: CA8474879
Gene: TAOK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1225597
ClinVar RCV Id: RCV001611163
dbSNP Id: rs3744624
ExAC: 17:27861329 T / C
gnomAD v2: 17-27861329-T-C
gnomAD v3: 17-29534311-T-C
gnomAD v4: 17-29534311-T-C
MyVariant Identifiers: chr17:g.27861329T>C (hg19) chr17:g.29534311T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29534311T>C , CM000679.2:g.29534311T>C GRCh38
NC_000017.10:g.27861329T>C , CM000679.1:g.27861329T>C GRCh37
NC_000017.9:g.24885455T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.2544+11T>C MANE Select ENSP00000261716.3:n.2544+11T>C
ENST00000261716.7:c.2544+11T>C ENSP00000261716.3:n.2544+11T>C
ENST00000536202.1:c.2100+11T>C ENSP00000438819.1:n.2100+11T>C
NM_020791.2:c.2544+11T>C NP_065842.1:n.2544+11T>C
NM_025142.1:c.2100+11T>C NP_079418.1:n.2100+11T>C
XM_011525060.1:c.2544+11T>C XP_011523362.1:n.2544+11T>C
XM_011525060.2:c.2544+11T>C XP_011523362.1:n.2544+11T>C
NM_020791.4:c.2544+11T>C MANE Select NP_065842.1:n.2544+11T>C
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