Canonical Allele Identifier: CA482136372

Gene: TBX3

Linked Data

• dbSNP Id: rs754002367
• gnomAD v2: 12-115112582-G-T
• gnomAD v4: 12-114674777-G-T
• MyVariant Identifiers: chr12:g.115112582G>T (hg19) ; chr12:g.114674777G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674777G>T , CM000674.2:g.114674777G>T	GRCh38
NC_000012.11:g.115112582G>T , CM000674.1:g.115112582G>T	GRCh37
NC_000012.10:g.113596965G>T	NCBI36
NG_008315.1:g.14388C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1098C>A MANE Select	ENSP00000257567.2:p.Gly366=
ENST00000257566.7:c.1158C>A	ENSP00000257566.3:p.Gly386=
ENST00000349155.6:c.1098C>A	ENSP00000257567.2:p.Gly366=
ENST00000613550.1:c.1098C>A	ENSP00000480048.1:p.Gly366=
NM_005996.3:c.1098C>A	NP_005987.3:p.Gly366=
NM_016569.3:c.1158C>A	NP_057653.3:p.Gly386=
NM_005996.4:c.1098C>A MANE Select	NP_005987.3:p.Gly366=
NM_016569.4:c.1158C>A	NP_057653.3:p.Gly386=