Canonical Allele Identifier: CA386869242

Gene: TBX3

Linked Data

• MyVariant Identifiers: chr12:g.115112394A>G (hg19) ; chr12:g.114674589A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674589A>G , CM000674.2:g.114674589A>G	GRCh38
NC_000012.11:g.115112394A>G , CM000674.1:g.115112394A>G	GRCh37
NC_000012.10:g.113596777A>G	NCBI36
NG_008315.1:g.14576T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1286T>C MANE Select	ENSP00000257567.2:p.Leu429Pro
ENST00000257566.7:c.1346T>C	ENSP00000257566.3:p.Leu449Pro
ENST00000349155.6:c.1286T>C	ENSP00000257567.2:p.Leu429Pro
ENST00000613550.1:c.1286T>C	ENSP00000480048.1:p.Leu429Pro
NM_005996.3:c.1286T>C	NP_005987.3:p.Leu429Pro
NM_016569.3:c.1346T>C	NP_057653.3:p.Leu449Pro
NM_005996.4:c.1286T>C MANE Select	NP_005987.3:p.Leu429Pro
NM_016569.4:c.1346T>C	NP_057653.3:p.Leu449Pro