Canonical Allele Identifier: CA386867977

Gene: TBX3

Linked Data

• MyVariant Identifiers: chr12:g.115109929G>C (hg19) ; chr12:g.114672124G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114672124G>C , CM000674.2:g.114672124G>C	GRCh38
NC_000012.11:g.115109929G>C , CM000674.1:g.115109929G>C	GRCh37
NC_000012.10:g.113594312G>C	NCBI36
NG_008315.1:g.17041C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000349155.7:c.1889C>G MANE Select	ENSP00000257567.2:p.Pro630Arg
ENST00000257566.7:c.1949C>G	ENSP00000257566.3:p.Pro650Arg
ENST00000349155.6:c.1889C>G	ENSP00000257567.2:p.Pro630Arg
ENST00000613550.1:c.1886C>G	ENSP00000480048.1:p.Pro629Arg
NM_005996.3:c.1889C>G	NP_005987.3:p.Pro630Arg
NM_016569.3:c.1949C>G	NP_057653.3:p.Pro650Arg
NM_005996.4:c.1889C>G MANE Select	NP_005987.3:p.Pro630Arg
NM_016569.4:c.1949C>G	NP_057653.3:p.Pro650Arg