Canonical Allele Identifier: CA6809971
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs760646591
ExAC: 12:115112478 C / G
gnomAD v2: 12-115112478-C-G
gnomAD v4: 12-114674673-C-G
MyVariant Identifiers: chr12:g.115112478C>G (hg19) chr12:g.114674673C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674673C>G , CM000674.2:g.114674673C>G GRCh38
NC_000012.11:g.115112478C>G , CM000674.1:g.115112478C>G GRCh37
NC_000012.10:g.113596861C>G NCBI36
NG_008315.1:g.14492G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1202G>C MANE Select ENSP00000257567.2:p.Arg401Pro
ENST00000257566.7:c.1262G>C ENSP00000257566.3:p.Arg421Pro
ENST00000349155.6:c.1202G>C ENSP00000257567.2:p.Arg401Pro
ENST00000613550.1:c.1202G>C ENSP00000480048.1:p.Arg401Pro
NM_005996.3:c.1202G>C NP_005987.3:p.Arg401Pro
NM_016569.3:c.1262G>C NP_057653.3:p.Arg421Pro
NM_005996.4:c.1202G>C MANE Select NP_005987.3:p.Arg401Pro
NM_016569.4:c.1262G>C NP_057653.3:p.Arg421Pro
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