Canonical Allele Identifier: CA6809763
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 307352
ClinVar RCV Id: RCV000327945
dbSNP Id: rs150286184
ExAC: 12:115109634 T / A
gnomAD v2: 12-115109634-T-A
gnomAD v3: 12-114671829-T-A
gnomAD v4: 12-114671829-T-A
MyVariant Identifiers: chr12:g.115109634T>A (hg19) chr12:g.114671829T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114671829T>A , CM000674.2:g.114671829T>A GRCh38
NC_000012.11:g.115109634T>A , CM000674.1:g.115109634T>A GRCh37
NC_000012.10:g.113594017T>A NCBI36
NG_008315.1:g.17336A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.*12A>T MANE Select ENSP00000257567.2:n.*12A>T
ENST00000257566.7:c.*12A>T ENSP00000257566.3:n.*12A>T
ENST00000349155.6:c.*12A>T ENSP00000257567.2:n.*12A>T
NM_005996.3:c.*12A>T NP_005987.3:n.*12A>T
NM_016569.3:c.*12A>T NP_057653.3:n.*12A>T
NM_005996.4:c.*12A>T MANE Select NP_005987.3:n.*12A>T
NM_016569.4:c.*12A>T NP_057653.3:n.*12A>T
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