Canonical Allele Identifier: CA482136468

Gene: TBX3

Linked Data

• dbSNP Id: rs1171355790
• gnomAD v2: 12-115112630-G-A
• gnomAD v4: 12-114674825-G-A
• MyVariant Identifiers: chr12:g.115112630G>A (hg19) ; chr12:g.114674825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674825G>A , CM000674.2:g.114674825G>A	GRCh38
NC_000012.11:g.115112630G>A , CM000674.1:g.115112630G>A	GRCh37
NC_000012.10:g.113597013G>A	NCBI36
NG_008315.1:g.14340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1050C>T MANE Select	ENSP00000257567.2:p.Pro350=
ENST00000257566.7:c.1110C>T	ENSP00000257566.3:p.Pro370=
ENST00000349155.6:c.1050C>T	ENSP00000257567.2:p.Pro350=
ENST00000613550.1:c.1050C>T	ENSP00000480048.1:p.Pro350=
NM_005996.3:c.1050C>T	NP_005987.3:p.Pro350=
NM_016569.3:c.1110C>T	NP_057653.3:p.Pro370=
NM_005996.4:c.1050C>T MANE Select	NP_005987.3:p.Pro350=
NM_016569.4:c.1110C>T	NP_057653.3:p.Pro370=