Canonical Allele Identifier: CA386869392
Gene: TBX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.115112472C>G (hg19) chr12:g.114674667C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674667C>G , CM000674.2:g.114674667C>G GRCh38
NC_000012.11:g.115112472C>G , CM000674.1:g.115112472C>G GRCh37
NC_000012.10:g.113596855C>G NCBI36
NG_008315.1:g.14498G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1208G>C MANE Select ENSP00000257567.2:p.Arg403Pro
ENST00000257566.7:c.1268G>C ENSP00000257566.3:p.Arg423Pro
ENST00000349155.6:c.1208G>C ENSP00000257567.2:p.Arg403Pro
ENST00000613550.1:c.1208G>C ENSP00000480048.1:p.Arg403Pro
NM_005996.3:c.1208G>C NP_005987.3:p.Arg403Pro
NM_016569.3:c.1268G>C NP_057653.3:p.Arg423Pro
NM_005996.4:c.1208G>C MANE Select NP_005987.3:p.Arg403Pro
NM_016569.4:c.1268G>C NP_057653.3:p.Arg423Pro
Search 100 bp 5'
Search 100 bp 3'