Canonical Allele Identifier: CA386869331
Gene: TBX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674635C>A , CM000674.2:g.114674635C>A GRCh38
NC_000012.11:g.115112440C>A , CM000674.1:g.115112440C>A GRCh37
NC_000012.10:g.113596823C>A NCBI36
NG_008315.1:g.14530G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1240G>T MANE Select ENSP00000257567.2:p.Asp414Tyr
ENST00000257566.7:c.1300G>T ENSP00000257566.3:p.Asp434Tyr
ENST00000349155.6:c.1240G>T ENSP00000257567.2:p.Asp414Tyr
ENST00000613550.1:c.1240G>T ENSP00000480048.1:p.Asp414Tyr
NM_005996.3:c.1240G>T NP_005987.3:p.Asp414Tyr
NM_016569.3:c.1300G>T NP_057653.3:p.Asp434Tyr
NM_005996.4:c.1240G>T MANE Select NP_005987.3:p.Asp414Tyr
NM_016569.4:c.1300G>T NP_057653.3:p.Asp434Tyr