Canonical Allele Identifier: CA398913464

Gene: TAOK1

Linked Data

• dbSNP Id: rs1773606807
• gnomAD v4: 17-29530407-T-G
• MyVariant Identifiers: chr17:g.27857425T>G (hg19) ; chr17:g.29530407T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29530407T>G , CM000679.2:g.29530407T>G	GRCh38
NC_000017.10:g.27857425T>G , CM000679.1:g.27857425T>G	GRCh37
NC_000017.9:g.24881551T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261716.8:c.2149T>G MANE Select	ENSP00000261716.3:p.Ser717Ala
ENST00000261716.7:c.2149T>G	ENSP00000261716.3:p.Ser717Ala
ENST00000536202.1:c.1705T>G	ENSP00000438819.1:p.Ser569Ala
ENST00000578653.1:n.233T>G
NM_020791.2:c.2149T>G	NP_065842.1:p.Ser717Ala
NM_025142.1:c.1705T>G	NP_079418.1:p.Ser569Ala
XM_011525060.1:c.2149T>G	XP_011523362.1:p.Ser717Ala
XM_011525060.2:c.2149T>G	XP_011523362.1:p.Ser717Ala
NM_020791.4:c.2149T>G MANE Select	NP_065842.1:p.Ser717Ala