Canonical Allele Identifier: CA163401

Gene: TBX5

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)

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