Canonical Allele Identifier: CA10632070
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 307280
ClinVar RCV Id: RCV000380085
dbSNP Id: rs886048988
MyVariant Identifiers: chr12:g.114792481A>T (hg19) chr12:g.114354676A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114354676A>T , CM000674.2:g.114354676A>T GRCh38
NC_000012.11:g.114792481A>T , CM000674.1:g.114792481A>T GRCh37
NC_000012.10:g.113276864A>T NCBI36
NG_007373.1:g.58767T>A , LRG_670:g.58767T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.*856T>A MANE Select ENSP00000384152.3:n.*856T>A
ENST00000310346.8:c.*856T>A ENSP00000309913.4:n.*856T>A
ENST00000349716.9:c.*856T>A ENSP00000337723.5:n.*856T>A
NM_000192.3:c.*856T>A , LRG_670t1:c.*856T>A NP_000183.2:n.*856T>A
NM_080717.2:c.*856T>A NP_542448.1:n.*856T>A
NM_181486.2:c.*856T>A NP_852259.1:n.*856T>A
XM_017019912.1:c.*856T>A XP_016875401.1:n.*856T>A
NM_080717.3:c.*856T>A NP_542448.1:n.*856T>A
NM_181486.4:c.*856T>A MANE Select NP_852259.1:n.*856T>A
NM_080717.4:c.*856T>A NP_542448.1:n.*856T>A
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