Canonical Allele Identifier: CA2621128905
Gene: TBX3 HGNC NCBI

Linked Data

gnomAD v4: 12-114670603-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670603A>G , CM000674.2:g.114670603A>G GRCh38
NC_000012.11:g.115108408A>G , CM000674.1:g.115108408A>G GRCh37
NC_000012.10:g.113592791A>G NCBI36
NG_008315.1:g.18562T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1238T>C MANE Select ENSP00000257567.2:n.*1238T>C
ENST00000257566.7:c.*1238T>C ENSP00000257566.3:n.*1238T>C
ENST00000349155.6:c.*1238T>C ENSP00000257567.2:n.*1238T>C
NM_005996.3:c.*1238T>C NP_005987.3:n.*1238T>C
NM_016569.3:c.*1238T>C NP_057653.3:n.*1238T>C
NM_005996.4:c.*1238T>C MANE Select NP_005987.3:n.*1238T>C
NM_016569.4:c.*1238T>C NP_057653.3:n.*1238T>C
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