Canonical Allele Identifier: CA386869637

Gene: TBX3

Linked Data

• MyVariant Identifiers: chr12:g.115112590C>G (hg19) ; chr12:g.114674785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674785C>G , CM000674.2:g.114674785C>G	GRCh38
NC_000012.11:g.115112590C>G , CM000674.1:g.115112590C>G	GRCh37
NC_000012.10:g.113596973C>G	NCBI36
NG_008315.1:g.14380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1090G>C MANE Select	ENSP00000257567.2:p.Glu364Gln
ENST00000257566.7:c.1150G>C	ENSP00000257566.3:p.Glu384Gln
ENST00000349155.6:c.1090G>C	ENSP00000257567.2:p.Glu364Gln
ENST00000613550.1:c.1090G>C	ENSP00000480048.1:p.Glu364Gln
NM_005996.3:c.1090G>C	NP_005987.3:p.Glu364Gln
NM_016569.3:c.1150G>C	NP_057653.3:p.Glu384Gln
NM_005996.4:c.1090G>C MANE Select	NP_005987.3:p.Glu364Gln
NM_016569.4:c.1150G>C	NP_057653.3:p.Glu384Gln