Canonical Allele Identifier: CA163401
Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 139662
ClinVar RCV Id: RCV000128626
dbSNP Id: rs515726234
MyVariant Identifiers: chr12:g.114837379T>A (hg19) chr12:g.114399574T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114399574T>A , CM000674.2:g.114399574T>A GRCh38
NC_000012.11:g.114837379T>A , CM000674.1:g.114837379T>A GRCh37
NC_000012.10:g.113321762T>A NCBI36
NG_007373.1:g.13869A>T , LRG_670:g.13869A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000405440.7:c.301A>T MANE Select ENSP00000384152.3:p.Ile101Phe
ENST00000310346.8:c.301A>T ENSP00000309913.4:p.Ile101Phe
ENST00000349716.9:c.151A>T ENSP00000337723.5:p.Ile51Phe
ENST00000405440.6:c.301A>T ENSP00000384152.2:p.Ile101Phe
ENST00000526441.1:c.301A>T ENSP00000433292.1:p.Ile101Phe
ENST00000552726.1:n.352A>T
NM_000192.3:c.301A>T , LRG_670t1:c.301A>T NP_000183.2:p.Ile101Phe
NM_080717.2:c.151A>T NP_542448.1:p.Ile51Phe
NM_181486.2:c.301A>T NP_852259.1:p.Ile101Phe
XM_017019912.1:c.349A>T XP_016875401.1:p.Ile117Phe
NM_080717.3:c.151A>T NP_542448.1:p.Ile51Phe
NM_181486.4:c.301A>T MANE Select NP_852259.1:p.Ile101Phe
NM_080717.4:c.151A>T NP_542448.1:p.Ile51Phe
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