Canonical Allele Identifier: CA683835317
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs1472597824
MyVariant Identifiers: chr12:g.115108410C>G (hg19) chr12:g.114670605C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670605C>G , CM000674.2:g.114670605C>G GRCh38
NC_000012.11:g.115108410C>G , CM000674.1:g.115108410C>G GRCh37
NC_000012.10:g.113592793C>G NCBI36
NG_008315.1:g.18560G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1236G>C MANE Select ENSP00000257567.2:n.*1236G>C
ENST00000257566.7:c.*1236G>C ENSP00000257566.3:n.*1236G>C
ENST00000349155.6:c.*1236G>C ENSP00000257567.2:n.*1236G>C
NM_005996.3:c.*1236G>C NP_005987.3:n.*1236G>C
NM_016569.3:c.*1236G>C NP_057653.3:n.*1236G>C
NM_005996.4:c.*1236G>C MANE Select NP_005987.3:n.*1236G>C
NM_016569.4:c.*1236G>C NP_057653.3:n.*1236G>C
Search 100 bp 5'
Search 100 bp 3'