Canonical Allele Identifier: CA399193576

Gene: TAOK1

Linked Data

• dbSNP Id: rs143989572
• gnomAD v3: 17-29495582-G-T
• gnomAD v4: 17-29495582-G-T
• MyVariant Identifiers: chr17:g.27822600G>T (hg19) ; chr17:g.29495582G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29495582G>T , CM000679.2:g.29495582G>T	GRCh38
NC_000017.10:g.27822600G>T , CM000679.1:g.27822600G>T	GRCh37
NC_000017.9:g.24846726G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261716.8:c.854G>T MANE Select	ENSP00000261716.3:p.Arg285Leu
ENST00000261716.7:c.854G>T	ENSP00000261716.3:p.Arg285Leu
ENST00000536202.1:c.854G>T	ENSP00000438819.1:p.Arg285Leu
ENST00000577583.1:n.702G>T
NM_020791.2:c.854G>T	NP_065842.1:p.Arg285Leu
NM_025142.1:c.854G>T	NP_079418.1:p.Arg285Leu
XM_011525060.1:c.854G>T	XP_011523362.1:p.Arg285Leu
XM_011525060.2:c.854G>T	XP_011523362.1:p.Arg285Leu
NM_020791.4:c.854G>T MANE Select	NP_065842.1:p.Arg285Leu