Canonical Allele Identifier: CA6809686

Gene: TBX5

Linked Data

• dbSNP Id: rs544138286
• ExAC: 12:114839696 A / G
• gnomAD v2: 12-114839696-A-G
• gnomAD v3: 12-114401891-A-G
• gnomAD v4: 12-114401891-A-G
• MyVariant Identifiers: chr12:g.114839696A>G (hg19) ; chr12:g.114401891A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401891A>G , CM000674.2:g.114401891A>G	GRCh38
NC_000012.11:g.114839696A>G , CM000674.1:g.114839696A>G	GRCh37
NC_000012.10:g.113324079A>G	NCBI36
NG_007373.1:g.11552T>C , LRG_670:g.11552T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.177T>C MANE Select	ENSP00000384152.3:p.His59=
ENST00000310346.8:c.177T>C	ENSP00000309913.4:p.His59=
ENST00000349716.9:c.27T>C	ENSP00000337723.5:p.His9=
ENST00000405440.6:c.177T>C	ENSP00000384152.2:p.His59=
ENST00000526441.1:c.177T>C	ENSP00000433292.1:p.His59=
ENST00000552726.1:n.228T>C
NM_000192.3:c.177T>C , LRG_670t1:c.177T>C	NP_000183.2:p.His59=
NM_080717.2:c.27T>C	NP_542448.1:p.His9=
NM_181486.2:c.177T>C	NP_852259.1:p.His59=
XM_017019912.1:c.225T>C	XP_016875401.1:p.His75=
NM_080717.3:c.27T>C	NP_542448.1:p.His9=
NM_181486.4:c.177T>C MANE Select	NP_852259.1:p.His59=
NM_080717.4:c.27T>C	NP_542448.1:p.His9=