Canonical Allele Identifier: CA400551283
Gene: TACO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1950716
ClinVar RCV Id: RCV002681441
gnomAD v4: 17-63606319-A-G
MyVariant Identifiers: chr17:g.61683679A>G (hg19) chr17:g.63606319A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63606319A>G , CM000679.2:g.63606319A>G GRCh38
NC_000017.10:g.61683679A>G , CM000679.1:g.61683679A>G GRCh37
NC_000017.9:g.59037411A>G NCBI36
NG_016979.1:g.10449A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682060.1:n.156A>G
ENST00000684587.1:c.391A>G ENSP00000507435.1:p.Lys131Glu
ENST00000690765.1:c.*220A>G ENSP00000510085.1:n.*220A>G
ENST00000258975.7:c.394A>G MANE Select ENSP00000258975.6:p.Lys132Glu
ENST00000258975.6:c.394A>G ENSP00000258975.6:p.Lys132Glu
ENST00000581120.1:n.596A>G
NM_016360.3:c.394A>G NP_057444.2:p.Lys132Glu
NM_016360.4:c.394A>G MANE Select NP_057444.2:p.Lys132Glu
Search 100 bp 5'
Search 100 bp 3'