Canonical Allele Identifier: CA244140257
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs931932080
gnomAD v4: 12-114670384-C-T
MyVariant Identifiers: chr12:g.115108189C>T (hg19) chr12:g.114670384C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670384C>T , CM000674.2:g.114670384C>T GRCh38
NC_000012.11:g.115108189C>T , CM000674.1:g.115108189C>T GRCh37
NC_000012.10:g.113592572C>T NCBI36
NG_008315.1:g.18781G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1457G>A MANE Select ENSP00000257567.2:n.*1457G>A
ENST00000257566.7:c.*1457G>A ENSP00000257566.3:n.*1457G>A
ENST00000349155.6:c.*1457G>A ENSP00000257567.2:n.*1457G>A
NM_005996.3:c.*1457G>A NP_005987.3:n.*1457G>A
NM_016569.3:c.*1457G>A NP_057653.3:n.*1457G>A
NM_005996.4:c.*1457G>A MANE Select NP_005987.3:n.*1457G>A
NM_016569.4:c.*1457G>A NP_057653.3:n.*1457G>A
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