Canonical Allele Identifier: CA16619437
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 419668
ClinVar RCV Id: RCV000486016
dbSNP Id: rs1064794030
MyVariant Identifiers: chr12:g.114839695C>A (hg19) chr12:g.114401890C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114401890C>A , CM000674.2:g.114401890C>A GRCh38
NC_000012.11:g.114839695C>A , CM000674.1:g.114839695C>A GRCh37
NC_000012.10:g.113324078C>A NCBI36
NG_007373.1:g.11553G>T , LRG_670:g.11553G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.178G>T MANE Select ENSP00000384152.3:p.Glu60Ter
ENST00000310346.8:c.178G>T ENSP00000309913.4:p.Glu60Ter
ENST00000349716.9:c.28G>T ENSP00000337723.5:p.Glu10Ter
ENST00000405440.6:c.178G>T ENSP00000384152.2:p.Glu60Ter
ENST00000526441.1:c.178G>T ENSP00000433292.1:p.Glu60Ter
ENST00000552726.1:n.229G>T
NM_000192.3:c.178G>T , LRG_670t1:c.178G>T NP_000183.2:p.Glu60Ter
NM_080717.2:c.28G>T NP_542448.1:p.Glu10Ter
NM_181486.2:c.178G>T NP_852259.1:p.Glu60Ter
XM_017019912.1:c.226G>T XP_016875401.1:p.Glu76Ter
NM_080717.3:c.28G>T NP_542448.1:p.Glu10Ter
NM_181486.4:c.178G>T MANE Select NP_852259.1:p.Glu60Ter
NM_080717.4:c.28G>T NP_542448.1:p.Glu10Ter
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