Canonical Allele Identifier: CA2621128903
Gene: TBX3 HGNC NCBI

Linked Data

gnomAD v4: 12-114670601-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670601G>A , CM000674.2:g.114670601G>A GRCh38
NC_000012.11:g.115108406G>A , CM000674.1:g.115108406G>A GRCh37
NC_000012.10:g.113592789G>A NCBI36
NG_008315.1:g.18564C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1240C>T MANE Select ENSP00000257567.2:n.*1240C>T
ENST00000257566.7:c.*1240C>T ENSP00000257566.3:n.*1240C>T
ENST00000349155.6:c.*1240C>T ENSP00000257567.2:n.*1240C>T
NM_005996.3:c.*1240C>T NP_005987.3:n.*1240C>T
NM_016569.3:c.*1240C>T NP_057653.3:n.*1240C>T
NM_005996.4:c.*1240C>T MANE Select NP_005987.3:n.*1240C>T
NM_016569.4:c.*1240C>T NP_057653.3:n.*1240C>T
Search 100 bp 5'
Search 100 bp 3'