Canonical Allele Identifier: CA386869422
Gene: TBX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.115112490A>C (hg19) chr12:g.114674685A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674685A>C , CM000674.2:g.114674685A>C GRCh38
NC_000012.11:g.115112490A>C , CM000674.1:g.115112490A>C GRCh37
NC_000012.10:g.113596873A>C NCBI36
NG_008315.1:g.14480T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.1190T>G MANE Select ENSP00000257567.2:p.Phe397Cys
ENST00000257566.7:c.1250T>G ENSP00000257566.3:p.Phe417Cys
ENST00000349155.6:c.1190T>G ENSP00000257567.2:p.Phe397Cys
ENST00000613550.1:c.1190T>G ENSP00000480048.1:p.Phe397Cys
NM_005996.3:c.1190T>G NP_005987.3:p.Phe397Cys
NM_016569.3:c.1250T>G NP_057653.3:p.Phe417Cys
NM_005996.4:c.1190T>G MANE Select NP_005987.3:p.Phe397Cys
NM_016569.4:c.1250T>G NP_057653.3:p.Phe417Cys
Search 100 bp 5'
Search 100 bp 3'