Canonical Allele Identifier: CA386867981

Gene: TBX3

Linked Data

• gnomAD v4: 12-114672125-G-A
• MyVariant Identifiers: chr12:g.115109930G>A (hg19) ; chr12:g.114672125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114672125G>A , CM000674.2:g.114672125G>A	GRCh38
NC_000012.11:g.115109930G>A , CM000674.1:g.115109930G>A	GRCh37
NC_000012.10:g.113594313G>A	NCBI36
NG_008315.1:g.17040C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000349155.7:c.1888C>T MANE Select	ENSP00000257567.2:p.Pro630Ser
ENST00000257566.7:c.1948C>T	ENSP00000257566.3:p.Pro650Ser
ENST00000349155.6:c.1888C>T	ENSP00000257567.2:p.Pro630Ser
ENST00000613550.1:c.1885C>T	ENSP00000480048.1:p.Pro629Ser
NM_005996.3:c.1888C>T	NP_005987.3:p.Pro630Ser
NM_016569.3:c.1948C>T	NP_057653.3:p.Pro650Ser
NM_005996.4:c.1888C>T MANE Select	NP_005987.3:p.Pro630Ser
NM_016569.4:c.1948C>T	NP_057653.3:p.Pro650Ser