Canonical Allele Identifier: CA386869461
Gene: TBX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674704C>G , CM000674.2:g.114674704C>G GRCh38
NC_000012.11:g.115112509C>G , CM000674.1:g.115112509C>G GRCh37
NC_000012.10:g.113596892C>G NCBI36
NG_008315.1:g.14461G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1171G>C MANE Select ENSP00000257567.2:p.Ala391Pro
ENST00000257566.7:c.1231G>C ENSP00000257566.3:p.Ala411Pro
ENST00000349155.6:c.1171G>C ENSP00000257567.2:p.Ala391Pro
ENST00000613550.1:c.1171G>C ENSP00000480048.1:p.Ala391Pro
NM_005996.3:c.1171G>C NP_005987.3:p.Ala391Pro
NM_016569.3:c.1231G>C NP_057653.3:p.Ala411Pro
NM_005996.4:c.1171G>C MANE Select NP_005987.3:p.Ala391Pro
NM_016569.4:c.1231G>C NP_057653.3:p.Ala411Pro