Canonical Allele Identifier: CA2064759678
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs1868368140
gnomAD v4: 12-114670477-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670477C>T , CM000674.2:g.114670477C>T GRCh38
NC_000012.11:g.115108282C>T , CM000674.1:g.115108282C>T GRCh37
NC_000012.10:g.113592665C>T NCBI36
NG_008315.1:g.18688G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.*1364G>A MANE Select ENSP00000257567.2:n.*1364G>A
ENST00000257566.7:c.*1364G>A ENSP00000257566.3:n.*1364G>A
ENST00000349155.6:c.*1364G>A ENSP00000257567.2:n.*1364G>A
NM_005996.3:c.*1364G>A NP_005987.3:n.*1364G>A
NM_016569.3:c.*1364G>A NP_057653.3:n.*1364G>A
NM_005996.4:c.*1364G>A MANE Select NP_005987.3:n.*1364G>A
NM_016569.4:c.*1364G>A NP_057653.3:n.*1364G>A
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