Canonical Allele Identifier: CA386869463
Gene: TBX3 HGNC NCBI

Linked Data

gnomAD v4: 12-114674706-G-T
MyVariant Identifiers: chr12:g.115112511G>T (hg19) chr12:g.114674706G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674706G>T , CM000674.2:g.114674706G>T GRCh38
NC_000012.11:g.115112511G>T , CM000674.1:g.115112511G>T GRCh37
NC_000012.10:g.113596894G>T NCBI36
NG_008315.1:g.14459C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1169C>A MANE Select ENSP00000257567.2:p.Pro390His
ENST00000257566.7:c.1229C>A ENSP00000257566.3:p.Pro410His
ENST00000349155.6:c.1169C>A ENSP00000257567.2:p.Pro390His
ENST00000613550.1:c.1169C>A ENSP00000480048.1:p.Pro390His
NM_005996.3:c.1169C>A NP_005987.3:p.Pro390His
NM_016569.3:c.1229C>A NP_057653.3:p.Pro410His
NM_005996.4:c.1169C>A MANE Select NP_005987.3:p.Pro390His
NM_016569.4:c.1229C>A NP_057653.3:p.Pro410His
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