Canonical Allele Identifier: CA16044038
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 375289
ClinVar RCV Id: RCV000416326
dbSNP Id: rs1057519050
MyVariant Identifiers: chr12:g.114836484A>C (hg19) chr12:g.114398679A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114398679A>C , CM000674.2:g.114398679A>C GRCh38
NC_000012.11:g.114836484A>C , CM000674.1:g.114836484A>C GRCh37
NC_000012.10:g.113320867A>C NCBI36
NG_007373.1:g.14764T>G , LRG_670:g.14764T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.404T>G MANE Select ENSP00000384152.3:p.Leu135Arg
ENST00000310346.8:c.404T>G ENSP00000309913.4:p.Leu135Arg
ENST00000349716.9:c.254T>G ENSP00000337723.5:p.Leu85Arg
ENST00000405440.6:c.404T>G ENSP00000384152.2:p.Leu135Arg
ENST00000526441.1:c.404T>G ENSP00000433292.1:p.Leu135Arg
ENST00000552726.1:n.455T>G
NM_000192.3:c.404T>G , LRG_670t1:c.404T>G NP_000183.2:p.Leu135Arg
NM_080717.2:c.254T>G NP_542448.1:p.Leu85Arg
NM_181486.2:c.404T>G NP_852259.1:p.Leu135Arg
XM_017019912.1:c.452T>G XP_016875401.1:p.Leu151Arg
NM_080717.3:c.254T>G NP_542448.1:p.Leu85Arg
NM_181486.4:c.404T>G MANE Select NP_852259.1:p.Leu135Arg
NM_080717.4:c.254T>G NP_542448.1:p.Leu85Arg
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