Canonical Allele Identifier: CA244127789

Gene: TBX5

Linked Data

• dbSNP Id: rs918381573
• gnomAD v2: 12-114836399-G-A
• gnomAD v4: 12-114398594-G-A
• MyVariant Identifiers: chr12:g.114836399G>A (hg19) ; chr12:g.114398594G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398594G>A , CM000674.2:g.114398594G>A	GRCh38
NC_000012.11:g.114836399G>A , CM000674.1:g.114836399G>A	GRCh37
NC_000012.10:g.113320782G>A	NCBI36
NG_007373.1:g.14849C>T , LRG_670:g.14849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.489C>T MANE Select	ENSP00000384152.3:p.Asn163=
ENST00000310346.8:c.489C>T	ENSP00000309913.4:p.Asn163=
ENST00000349716.9:c.339C>T	ENSP00000337723.5:p.Asn113=
ENST00000405440.6:c.489C>T	ENSP00000384152.2:p.Asn163=
ENST00000526441.1:c.489C>T	ENSP00000433292.1:p.Asn163=
ENST00000552726.1:n.540C>T
NM_000192.3:c.489C>T , LRG_670t1:c.489C>T	NP_000183.2:p.Asn163=
NM_080717.2:c.339C>T	NP_542448.1:p.Asn113=
NM_181486.2:c.489C>T	NP_852259.1:p.Asn163=
XM_017019912.1:c.537C>T	XP_016875401.1:p.Asn179=
NM_080717.3:c.339C>T	NP_542448.1:p.Asn113=
NM_181486.4:c.489C>T MANE Select	NP_852259.1:p.Asn163=
NM_080717.4:c.339C>T	NP_542448.1:p.Asn113=