Canonical Allele Identifier: CA386869401

Gene: TBX3

Linked Data

• dbSNP Id: rs760646591
• gnomAD v4: 12-114674673-C-T
• MyVariant Identifiers: chr12:g.115112478C>T (hg19) ; chr12:g.114674673C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674673C>T , CM000674.2:g.114674673C>T	GRCh38
NC_000012.11:g.115112478C>T , CM000674.1:g.115112478C>T	GRCh37
NC_000012.10:g.113596861C>T	NCBI36
NG_008315.1:g.14492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1202G>A MANE Select	ENSP00000257567.2:p.Arg401Gln
ENST00000257566.7:c.1262G>A	ENSP00000257566.3:p.Arg421Gln
ENST00000349155.6:c.1202G>A	ENSP00000257567.2:p.Arg401Gln
ENST00000613550.1:c.1202G>A	ENSP00000480048.1:p.Arg401Gln
NM_005996.3:c.1202G>A	NP_005987.3:p.Arg401Gln
NM_016569.3:c.1262G>A	NP_057653.3:p.Arg421Gln
NM_005996.4:c.1202G>A MANE Select	NP_005987.3:p.Arg401Gln
NM_016569.4:c.1262G>A	NP_057653.3:p.Arg421Gln