Canonical Allele Identifier: CA386869314
Gene: TBX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674626G>C , CM000674.2:g.114674626G>C GRCh38
NC_000012.11:g.115112431G>C , CM000674.1:g.115112431G>C GRCh37
NC_000012.10:g.113596814G>C NCBI36
NG_008315.1:g.14539C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1249C>G MANE Select ENSP00000257567.2:p.His417Asp
ENST00000257566.7:c.1309C>G ENSP00000257566.3:p.His437Asp
ENST00000349155.6:c.1249C>G ENSP00000257567.2:p.His417Asp
ENST00000613550.1:c.1249C>G ENSP00000480048.1:p.His417Asp
NM_005996.3:c.1249C>G NP_005987.3:p.His417Asp
NM_016569.3:c.1309C>G NP_057653.3:p.His437Asp
NM_005996.4:c.1249C>G MANE Select NP_005987.3:p.His417Asp
NM_016569.4:c.1309C>G NP_057653.3:p.His437Asp