Canonical Allele Identifier: CA400551287
Gene: TACO1 HGNC NCBI

Linked Data

gnomAD v4: 17-63606320-A-C
MyVariant Identifiers: chr17:g.61683680A>C (hg19) chr17:g.63606320A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63606320A>C , CM000679.2:g.63606320A>C GRCh38
NC_000017.10:g.61683680A>C , CM000679.1:g.61683680A>C GRCh37
NC_000017.9:g.59037412A>C NCBI36
NG_016979.1:g.10450A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682060.1:n.157A>C
ENST00000684587.1:c.392A>C ENSP00000507435.1:p.Lys131Thr
ENST00000690765.1:c.*221A>C ENSP00000510085.1:n.*221A>C
ENST00000258975.7:c.395A>C MANE Select ENSP00000258975.6:p.Lys132Thr
ENST00000258975.6:c.395A>C ENSP00000258975.6:p.Lys132Thr
ENST00000581120.1:n.597A>C
NM_016360.3:c.395A>C NP_057444.2:p.Lys132Thr
NM_016360.4:c.395A>C MANE Select NP_057444.2:p.Lys132Thr
Search 100 bp 5'
Search 100 bp 3'