Canonical Allele Identifier: CA6810287
Gene: TBX3 HGNC NCBI
TBX3-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3052954
ClinVar RCV Id: RCV003971656
dbSNP Id: rs144772866
ExAC: 12:115121006 C / G
gnomAD v2: 12-115121006-C-G
gnomAD v3: 12-114683201-C-G
gnomAD v4: 12-114683201-C-G
MyVariant Identifiers: chr12:g.115121006C>G (hg19) chr12:g.114683201C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114683201C>G , CM000674.2:g.114683201C>G GRCh38
NC_000012.11:g.115121006C>G , CM000674.1:g.115121006C>G GRCh37
NC_000012.10:g.113605389C>G NCBI36
NG_008315.1:g.5964G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.-1G>C (TBX3) MANE Select ENSP00000257567.2:n.-1G>C
ENST00000257566.7:c.-1G>C (TBX3) ENSP00000257566.3:n.-1G>C
ENST00000349155.6:c.-1G>C (TBX3) ENSP00000257567.2:n.-1G>C
ENST00000552054.1:n.234G>C (TBX3)
ENST00000613550.1:c.-1G>C (TBX3) ENSP00000480048.1:n.-1G>C
NM_005996.3:c.-1G>C (TBX3) NP_005987.3:n.-1G>C
NM_016569.3:c.-1G>C (TBX3) NP_057653.3:n.-1G>C
XR_002957433.1:n.114+567C>G (TBX3-AS1)
NM_005996.4:c.-1G>C (TBX3) MANE Select NP_005987.3:n.-1G>C
NM_016569.4:c.-1G>C (TBX3) NP_057653.3:n.-1G>C
Search 100 bp 5'
Search 100 bp 3'