Canonical Allele Identifier: CA8474863
Gene: TAOK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2234487
ClinVar RCV Id: RCV002723362
dbSNP Id: rs771446745
ExAC: 17:27861241 G / T
gnomAD v2: 17-27861241-G-T
gnomAD v3: 17-29534223-G-T
gnomAD v4: 17-29534223-G-T
MyVariant Identifiers: chr17:g.27861241G>T (hg19) chr17:g.29534223G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29534223G>T , CM000679.2:g.29534223G>T GRCh38
NC_000017.10:g.27861241G>T , CM000679.1:g.27861241G>T GRCh37
NC_000017.9:g.24885367G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.2467G>T MANE Select ENSP00000261716.3:p.Ala823Ser
ENST00000261716.7:c.2467G>T ENSP00000261716.3:p.Ala823Ser
ENST00000536202.1:c.2023G>T ENSP00000438819.1:p.Ala675Ser
NM_020791.2:c.2467G>T NP_065842.1:p.Ala823Ser
NM_025142.1:c.2023G>T NP_079418.1:p.Ala675Ser
XM_011525060.1:c.2467G>T XP_011523362.1:p.Ala823Ser
XM_011525060.2:c.2467G>T XP_011523362.1:p.Ala823Ser
NM_020791.4:c.2467G>T MANE Select NP_065842.1:p.Ala823Ser
Search 100 bp 5'
Search 100 bp 3'