Canonical Allele Identifier: CA10632067

Gene: TBX5

Linked Data

• ClinVar Variation Id: 307275
• ClinVar RCV Id: RCV000273486 ; RCV001539907
• dbSNP Id: rs6489956
• gnomAD v2: 12-114792236-T-C
• gnomAD v3: 12-114354431-T-C
• gnomAD v4: 12-114354431-T-C
• MyVariant Identifiers: chr12:g.114792236T>C (hg19) ; chr12:g.114354431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114354431T>C , CM000674.2:g.114354431T>C	GRCh38
NC_000012.11:g.114792236T>C , CM000674.1:g.114792236T>C	GRCh37
NC_000012.10:g.113276619T>C	NCBI36
NG_007373.1:g.59012A>G , LRG_670:g.59012A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.*1101A>G MANE Select	ENSP00000384152.3:n.*1101A>G
ENST00000310346.8:c.*1101A>G	ENSP00000309913.4:n.*1101A>G
ENST00000349716.9:c.*1101A>G	ENSP00000337723.5:n.*1101A>G
NM_000192.3:c.*1101A>G , LRG_670t1:c.*1101A>G	NP_000183.2:n.*1101A>G
NM_080717.2:c.*1101A>G	NP_542448.1:n.*1101A>G
NM_181486.2:c.*1101A>G	NP_852259.1:n.*1101A>G
XM_017019912.1:c.*1101A>G	XP_016875401.1:n.*1101A>G
NM_080717.3:c.*1101A>G	NP_542448.1:n.*1101A>G
NM_181486.4:c.*1101A>G MANE Select	NP_852259.1:n.*1101A>G
NM_080717.4:c.*1101A>G	NP_542448.1:n.*1101A>G