Canonical Allele Identifier: CA386869641
Gene: TBX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674787T>G , CM000674.2:g.114674787T>G GRCh38
NC_000012.11:g.115112592T>G , CM000674.1:g.115112592T>G GRCh37
NC_000012.10:g.113596975T>G NCBI36
NG_008315.1:g.14378A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1088A>C MANE Select ENSP00000257567.2:p.Glu363Ala
ENST00000257566.7:c.1148A>C ENSP00000257566.3:p.Glu383Ala
ENST00000349155.6:c.1088A>C ENSP00000257567.2:p.Glu363Ala
ENST00000613550.1:c.1088A>C ENSP00000480048.1:p.Glu363Ala
NM_005996.3:c.1088A>C NP_005987.3:p.Glu363Ala
NM_016569.3:c.1148A>C NP_057653.3:p.Glu383Ala
NM_005996.4:c.1088A>C MANE Select NP_005987.3:p.Glu363Ala
NM_016569.4:c.1148A>C NP_057653.3:p.Glu383Ala