Canonical Allele Identifier: CA16619436
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 419717
ClinVar RCV Id: RCV000478764
dbSNP Id: rs1064794062

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114356011G>A , CM000674.2:g.114356011G>A GRCh38
NC_000012.11:g.114793816G>A , CM000674.1:g.114793816G>A GRCh37
NC_000012.10:g.113278199G>A NCBI36
NG_007373.1:g.57432C>T , LRG_670:g.57432C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.1078C>T MANE Select ENSP00000384152.3:p.Gln360Ter
ENST00000310346.8:c.1078C>T ENSP00000309913.4:p.Gln360Ter
ENST00000349716.9:c.928C>T ENSP00000337723.5:p.Gln310Ter
ENST00000405440.6:c.1078C>T ENSP00000384152.2:p.Gln360Ter
NM_000192.3:c.1078C>T , LRG_670t1:c.1078C>T NP_000183.2:p.Gln360Ter
NM_080717.2:c.928C>T NP_542448.1:p.Gln310Ter
NM_181486.2:c.1078C>T NP_852259.1:p.Gln360Ter
XM_017019912.1:c.1126C>T XP_016875401.1:p.Gln376Ter
NM_080717.3:c.928C>T NP_542448.1:p.Gln310Ter
NM_181486.4:c.1078C>T MANE Select NP_852259.1:p.Gln360Ter
NM_080717.4:c.928C>T NP_542448.1:p.Gln310Ter