Canonical Allele Identifier: CA482136654

Gene: TBX3

Linked Data

• dbSNP Id: rs1476546013
• gnomAD v2: 12-115112435-T-C
• gnomAD v4: 12-114674630-T-C
• MyVariant Identifiers: chr12:g.115112435T>C (hg19) ; chr12:g.114674630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674630T>C , CM000674.2:g.114674630T>C	GRCh38
NC_000012.11:g.115112435T>C , CM000674.1:g.115112435T>C	GRCh37
NC_000012.10:g.113596818T>C	NCBI36
NG_008315.1:g.14535A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1245A>G MANE Select	ENSP00000257567.2:p.Ser415=
ENST00000257566.7:c.1305A>G	ENSP00000257566.3:p.Ser435=
ENST00000349155.6:c.1245A>G	ENSP00000257567.2:p.Ser415=
ENST00000613550.1:c.1245A>G	ENSP00000480048.1:p.Ser415=
NM_005996.3:c.1245A>G	NP_005987.3:p.Ser415=
NM_016569.3:c.1305A>G	NP_057653.3:p.Ser435=
NM_005996.4:c.1245A>G MANE Select	NP_005987.3:p.Ser415=
NM_016569.4:c.1305A>G	NP_057653.3:p.Ser435=