Canonical Allele Identifier: CA8474340
Gene: TAOK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2647609
ClinVar RCV Id: RCV003428205 RCV004554196
dbSNP Id: rs138594590
ExAC: 17:27778596 G / A
gnomAD v2: 17-27778596-G-A
gnomAD v3: 17-29451578-G-A
gnomAD v4: 17-29451578-G-A
COSMIC: COSM3680124
MyVariant Identifiers: chr17:g.27778596G>A (hg19) chr17:g.29451578G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29451578G>A , CM000679.2:g.29451578G>A GRCh38
NC_000017.10:g.27778596G>A , CM000679.1:g.27778596G>A GRCh37
NC_000017.9:g.24802722G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.30G>A MANE Select ENSP00000261716.3:p.Leu10=
ENST00000261716.7:c.30G>A ENSP00000261716.3:p.Leu10=
ENST00000536202.1:c.30G>A ENSP00000438819.1:p.Leu10=
ENST00000583121.5:c.30G>A ENSP00000464562.1:p.Leu10=
ENST00000587277.1:n.224G>A
NM_020791.2:c.30G>A NP_065842.1:p.Leu10=
NM_025142.1:c.30G>A NP_079418.1:p.Leu10=
XM_011525060.1:c.30G>A XP_011523362.1:p.Leu10=
XM_011525060.2:c.30G>A XP_011523362.1:p.Leu10=
NM_020791.4:c.30G>A MANE Select NP_065842.1:p.Leu10=
Search 100 bp 5'
Search 100 bp 3'