Canonical Allele Identifier: CA386869245

Gene: TBX3

Linked Data

• dbSNP Id: rs1235530894
• MyVariant Identifiers: chr12:g.115112395G>C (hg19) ; chr12:g.114674590G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674590G>C , CM000674.2:g.114674590G>C	GRCh38
NC_000012.11:g.115112395G>C , CM000674.1:g.115112395G>C	GRCh37
NC_000012.10:g.113596778G>C	NCBI36
NG_008315.1:g.14575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1285C>G MANE Select	ENSP00000257567.2:p.Leu429Val
ENST00000257566.7:c.1345C>G	ENSP00000257566.3:p.Leu449Val
ENST00000349155.6:c.1285C>G	ENSP00000257567.2:p.Leu429Val
ENST00000613550.1:c.1285C>G	ENSP00000480048.1:p.Leu429Val
NM_005996.3:c.1285C>G	NP_005987.3:p.Leu429Val
NM_016569.3:c.1345C>G	NP_057653.3:p.Leu449Val
NM_005996.4:c.1285C>G MANE Select	NP_005987.3:p.Leu429Val
NM_016569.4:c.1345C>G	NP_057653.3:p.Leu449Val