Canonical Allele Identifier: CA2064759801
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs1868370319
gnomAD v4: 12-114670576-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670576A>G , CM000674.2:g.114670576A>G GRCh38
NC_000012.11:g.115108381A>G , CM000674.1:g.115108381A>G GRCh37
NC_000012.10:g.113592764A>G NCBI36
NG_008315.1:g.18589T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.*1265T>C MANE Select ENSP00000257567.2:n.*1265T>C
ENST00000257566.7:c.*1265T>C ENSP00000257566.3:n.*1265T>C
ENST00000349155.6:c.*1265T>C ENSP00000257567.2:n.*1265T>C
NM_005996.3:c.*1265T>C NP_005987.3:n.*1265T>C
NM_016569.3:c.*1265T>C NP_057653.3:n.*1265T>C
NM_005996.4:c.*1265T>C MANE Select NP_005987.3:n.*1265T>C
NM_016569.4:c.*1265T>C NP_057653.3:n.*1265T>C
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