Canonical Allele Identifier: CA2064633114
Gene: TBX5 HGNC NCBI

Linked Data

dbSNP Id: rs1868786882
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114354889C>T , CM000674.2:g.114354889C>T GRCh38
NC_000012.11:g.114792694C>T , CM000674.1:g.114792694C>T GRCh37
NC_000012.10:g.113277077C>T NCBI36
NG_007373.1:g.58554G>A , LRG_670:g.58554G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.*643G>A MANE Select ENSP00000384152.3:n.*643G>A
ENST00000310346.8:c.*643G>A ENSP00000309913.4:n.*643G>A
ENST00000349716.9:c.*643G>A ENSP00000337723.5:n.*643G>A
NM_000192.3:c.*643G>A , LRG_670t1:c.*643G>A NP_000183.2:n.*643G>A
NM_080717.2:c.*643G>A NP_542448.1:n.*643G>A
NM_181486.2:c.*643G>A NP_852259.1:n.*643G>A
XM_017019912.1:c.*643G>A XP_016875401.1:n.*643G>A
NM_080717.3:c.*643G>A NP_542448.1:n.*643G>A
NM_181486.4:c.*643G>A MANE Select NP_852259.1:n.*643G>A
NM_080717.4:c.*643G>A NP_542448.1:n.*643G>A
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