Canonical Allele Identifier: CA683835224
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs1470155425
gnomAD v3: 12-114670382-A-C
gnomAD v4: 12-114670382-A-C
MyVariant Identifiers: chr12:g.115108187A>C (hg19) chr12:g.114670382A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670382A>C , CM000674.2:g.114670382A>C GRCh38
NC_000012.11:g.115108187A>C , CM000674.1:g.115108187A>C GRCh37
NC_000012.10:g.113592570A>C NCBI36
NG_008315.1:g.18783T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1459T>G MANE Select ENSP00000257567.2:n.*1459T>G
ENST00000257566.7:c.*1459T>G ENSP00000257566.3:n.*1459T>G
ENST00000349155.6:c.*1459T>G ENSP00000257567.2:n.*1459T>G
NM_005996.3:c.*1459T>G NP_005987.3:n.*1459T>G
NM_016569.3:c.*1459T>G NP_057653.3:n.*1459T>G
NM_005996.4:c.*1459T>G MANE Select NP_005987.3:n.*1459T>G
NM_016569.4:c.*1459T>G NP_057653.3:n.*1459T>G
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