Canonical Allele Identifier: CA399189215
Gene: TAOK1 HGNC NCBI

Linked Data

dbSNP Id: rs1291606301

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29477708T>C , CM000679.2:g.29477708T>C GRCh38
NC_000017.10:g.27804726T>C , CM000679.1:g.27804726T>C GRCh37
NC_000017.9:g.24828852T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.352+2T>C MANE Select ENSP00000261716.3:n.352+2T>C
ENST00000261716.7:c.352+2T>C ENSP00000261716.3:n.352+2T>C
ENST00000536202.1:c.352+2T>C ENSP00000438819.1:n.352+2T>C
NM_020791.2:c.352+2T>C NP_065842.1:n.352+2T>C
NM_025142.1:c.352+2T>C NP_079418.1:n.352+2T>C
XM_011525060.1:c.352+2T>C XP_011523362.1:n.352+2T>C
XM_011525060.2:c.352+2T>C XP_011523362.1:n.352+2T>C
NM_020791.4:c.352+2T>C MANE Select NP_065842.1:n.352+2T>C