Canonical Allele Identifier: CA6809972
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs763697862
ExAC: 12:115112480 C / G
gnomAD v2: 12-115112480-C-G
gnomAD v4: 12-114674675-C-G
MyVariant Identifiers: chr12:g.115112480C>G (hg19) chr12:g.114674675C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674675C>G , CM000674.2:g.114674675C>G GRCh38
NC_000012.11:g.115112480C>G , CM000674.1:g.115112480C>G GRCh37
NC_000012.10:g.113596863C>G NCBI36
NG_008315.1:g.14490G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.1200G>C MANE Select ENSP00000257567.2:p.Glu400Asp
ENST00000257566.7:c.1260G>C ENSP00000257566.3:p.Glu420Asp
ENST00000349155.6:c.1200G>C ENSP00000257567.2:p.Glu400Asp
ENST00000613550.1:c.1200G>C ENSP00000480048.1:p.Glu400Asp
NM_005996.3:c.1200G>C NP_005987.3:p.Glu400Asp
NM_016569.3:c.1260G>C NP_057653.3:p.Glu420Asp
NM_005996.4:c.1200G>C MANE Select NP_005987.3:p.Glu400Asp
NM_016569.4:c.1260G>C NP_057653.3:p.Glu420Asp
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