Canonical Allele Identifier: CA244140408
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs573616266
gnomAD v2: 12-115108405-T-C
gnomAD v3: 12-114670600-T-C
gnomAD v4: 12-114670600-T-C
MyVariant Identifiers: chr12:g.115108405T>C (hg19) chr12:g.114670600T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670600T>C , CM000674.2:g.114670600T>C GRCh38
NC_000012.11:g.115108405T>C , CM000674.1:g.115108405T>C GRCh37
NC_000012.10:g.113592788T>C NCBI36
NG_008315.1:g.18565A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.*1241A>G MANE Select ENSP00000257567.2:n.*1241A>G
ENST00000257566.7:c.*1241A>G ENSP00000257566.3:n.*1241A>G
ENST00000349155.6:c.*1241A>G ENSP00000257567.2:n.*1241A>G
NM_005996.3:c.*1241A>G NP_005987.3:n.*1241A>G
NM_016569.3:c.*1241A>G NP_057653.3:n.*1241A>G
NM_005996.4:c.*1241A>G MANE Select NP_005987.3:n.*1241A>G
NM_016569.4:c.*1241A>G NP_057653.3:n.*1241A>G
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