Canonical Allele Identifier: CA386867971

Gene: TBX3

Linked Data

• gnomAD v4: 12-114672121-T-C
• MyVariant Identifiers: chr12:g.115109926T>C (hg19) ; chr12:g.114672121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114672121T>C , CM000674.2:g.114672121T>C	GRCh38
NC_000012.11:g.115109926T>C , CM000674.1:g.115109926T>C	GRCh37
NC_000012.10:g.113594309T>C	NCBI36
NG_008315.1:g.17044A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000349155.7:c.1892A>G MANE Select	ENSP00000257567.2:p.Asp631Gly
ENST00000257566.7:c.1952A>G	ENSP00000257566.3:p.Asp651Gly
ENST00000349155.6:c.1892A>G	ENSP00000257567.2:p.Asp631Gly
ENST00000613550.1:c.1889A>G	ENSP00000480048.1:p.Asp630Gly
NM_005996.3:c.1892A>G	NP_005987.3:p.Asp631Gly
NM_016569.3:c.1952A>G	NP_057653.3:p.Asp651Gly
NM_005996.4:c.1892A>G MANE Select	NP_005987.3:p.Asp631Gly
NM_016569.4:c.1952A>G	NP_057653.3:p.Asp651Gly