Canonical Allele Identifier: CA6810011
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs762652334
ExAC: 12:115112635 A / G
gnomAD v2: 12-115112635-A-G
gnomAD v4: 12-114674830-A-G
MyVariant Identifiers: chr12:g.115112635A>G (hg19) chr12:g.114674830A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674830A>G , CM000674.2:g.114674830A>G GRCh38
NC_000012.11:g.115112635A>G , CM000674.1:g.115112635A>G GRCh37
NC_000012.10:g.113597018A>G NCBI36
NG_008315.1:g.14335T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1045T>C MANE Select ENSP00000257567.2:p.Cys349Arg
ENST00000257566.7:c.1105T>C ENSP00000257566.3:p.Cys369Arg
ENST00000349155.6:c.1045T>C ENSP00000257567.2:p.Cys349Arg
ENST00000613550.1:c.1045T>C ENSP00000480048.1:p.Cys349Arg
NM_005996.3:c.1045T>C NP_005987.3:p.Cys349Arg
NM_016569.3:c.1105T>C NP_057653.3:p.Cys369Arg
NM_005996.4:c.1045T>C MANE Select NP_005987.3:p.Cys349Arg
NM_016569.4:c.1105T>C NP_057653.3:p.Cys369Arg
Search 100 bp 5'
Search 100 bp 3'