Canonical Allele Identifier: CA6809954
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs760237826
ExAC: 12:115112424 G / A
gnomAD v2: 12-115112424-G-A
gnomAD v4: 12-114674619-G-A
MyVariant Identifiers: chr12:g.115112424G>A (hg19) chr12:g.114674619G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674619G>A , CM000674.2:g.114674619G>A GRCh38
NC_000012.11:g.115112424G>A , CM000674.1:g.115112424G>A GRCh37
NC_000012.10:g.113596807G>A NCBI36
NG_008315.1:g.14546C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1256C>T MANE Select ENSP00000257567.2:p.Pro419Leu
ENST00000257566.7:c.1316C>T ENSP00000257566.3:p.Pro439Leu
ENST00000349155.6:c.1256C>T ENSP00000257567.2:p.Pro419Leu
ENST00000613550.1:c.1256C>T ENSP00000480048.1:p.Pro419Leu
NM_005996.3:c.1256C>T NP_005987.3:p.Pro419Leu
NM_016569.3:c.1316C>T NP_057653.3:p.Pro439Leu
NM_005996.4:c.1256C>T MANE Select NP_005987.3:p.Pro419Leu
NM_016569.4:c.1316C>T NP_057653.3:p.Pro439Leu
Search 100 bp 5'
Search 100 bp 3'