Canonical Allele Identifier: CA386869680
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs2121385685

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674805G>A , CM000674.2:g.114674805G>A GRCh38
NC_000012.11:g.115112610G>A , CM000674.1:g.115112610G>A GRCh37
NC_000012.10:g.113596993G>A NCBI36
NG_008315.1:g.14360C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1070C>T MANE Select ENSP00000257567.2:p.Ala357Val
ENST00000257566.7:c.1130C>T ENSP00000257566.3:p.Ala377Val
ENST00000349155.6:c.1070C>T ENSP00000257567.2:p.Ala357Val
ENST00000613550.1:c.1070C>T ENSP00000480048.1:p.Ala357Val
NM_005996.3:c.1070C>T NP_005987.3:p.Ala357Val
NM_016569.3:c.1130C>T NP_057653.3:p.Ala377Val
NM_005996.4:c.1070C>T MANE Select NP_005987.3:p.Ala357Val
NM_016569.4:c.1130C>T NP_057653.3:p.Ala377Val