Canonical Allele Identifier: CA386867978

Gene: TBX3

Linked Data

• gnomAD v4: 12-114672124-G-T
• COSMIC: COSM935496
• MyVariant Identifiers: chr12:g.115109929G>T (hg19) ; chr12:g.114672124G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000349155.7:c.1889C>A MANE Select	ENSP00000257567.2:p.Pro630Gln
ENST00000257566.7:c.1949C>A	ENSP00000257566.3:p.Pro650Gln
ENST00000349155.6:c.1889C>A	ENSP00000257567.2:p.Pro630Gln
ENST00000613550.1:c.1886C>A	ENSP00000480048.1:p.Pro629Gln
NM_005996.3:c.1889C>A	NP_005987.3:p.Pro630Gln
NM_016569.3:c.1949C>A	NP_057653.3:p.Pro650Gln
NM_005996.4:c.1889C>A MANE Select	NP_005987.3:p.Pro630Gln
NM_016569.4:c.1949C>A	NP_057653.3:p.Pro650Gln