Canonical Allele Identifier: CA482136165
Gene: TBX3 HGNC NCBI

Linked Data

gnomAD v4: 12-114674681-A-C
MyVariant Identifiers: chr12:g.115112486A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674681A>C , CM000674.2:g.114674681A>C GRCh38
NC_000012.11:g.115112486A>C , CM000674.1:g.115112486A>C GRCh37
NC_000012.10:g.113596869A>C NCBI36
NG_008315.1:g.14484T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1194T>G MANE Select ENSP00000257567.2:p.Ala398=
ENST00000257566.7:c.1254T>G ENSP00000257566.3:p.Ala418=
ENST00000349155.6:c.1194T>G ENSP00000257567.2:p.Ala398=
ENST00000613550.1:c.1194T>G ENSP00000480048.1:p.Ala398=
NM_005996.3:c.1194T>G NP_005987.3:p.Ala398=
NM_016569.3:c.1254T>G NP_057653.3:p.Ala418=
NM_005996.4:c.1194T>G MANE Select NP_005987.3:p.Ala398=
NM_016569.4:c.1254T>G NP_057653.3:p.Ala418=
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