Canonical Allele Identifier: CA2602870633
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs2121370322
gnomAD v3: 12-114670614-G-A
gnomAD v4: 12-114670614-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670614G>A , CM000674.2:g.114670614G>A GRCh38
NC_000012.11:g.115108419G>A , CM000674.1:g.115108419G>A GRCh37
NC_000012.10:g.113592802G>A NCBI36
NG_008315.1:g.18551C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1227C>T MANE Select ENSP00000257567.2:n.*1227C>T
ENST00000257566.7:c.*1227C>T ENSP00000257566.3:n.*1227C>T
ENST00000349155.6:c.*1227C>T ENSP00000257567.2:n.*1227C>T
NM_005996.3:c.*1227C>T NP_005987.3:n.*1227C>T
NM_016569.3:c.*1227C>T NP_057653.3:n.*1227C>T
NM_005996.4:c.*1227C>T MANE Select NP_005987.3:n.*1227C>T
NM_016569.4:c.*1227C>T NP_057653.3:n.*1227C>T
Search 100 bp 5'
Search 100 bp 3'