Canonical Allele Identifier: CA6809673

Gene: TBX5

Linked Data

• dbSNP Id: rs562012943
• ExAC: 12:114839604 C / T
• gnomAD v2: 12-114839604-C-T
• gnomAD v3: 12-114401799-C-T
• gnomAD v4: 12-114401799-C-T
• MyVariant Identifiers: chr12:g.114839604C>T (hg19) ; chr12:g.114401799C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401799C>T , CM000674.2:g.114401799C>T	GRCh38
NC_000012.11:g.114839604C>T , CM000674.1:g.114839604C>T	GRCh37
NC_000012.10:g.113323987C>T	NCBI36
NG_007373.1:g.11644G>A , LRG_670:g.11644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.242+27G>A MANE Select	ENSP00000384152.3:n.242+27G>A
ENST00000310346.8:c.242+27G>A	ENSP00000309913.4:n.242+27G>A
ENST00000349716.9:c.92+27G>A	ENSP00000337723.5:n.92+27G>A
ENST00000405440.6:c.242+27G>A	ENSP00000384152.2:n.242+27G>A
ENST00000526441.1:c.242+27G>A	ENSP00000433292.1:n.242+27G>A
ENST00000552726.1:n.293+27G>A
NM_000192.3:c.242+27G>A , LRG_670t1:c.242+27G>A	NP_000183.2:n.242+27G>A
NM_080717.2:c.92+27G>A	NP_542448.1:n.92+27G>A
NM_181486.2:c.242+27G>A	NP_852259.1:n.242+27G>A
XM_017019912.1:c.290+27G>A	XP_016875401.1:n.290+27G>A
NM_080717.3:c.92+27G>A	NP_542448.1:n.92+27G>A
NM_181486.4:c.242+27G>A MANE Select	NP_852259.1:n.242+27G>A
NM_080717.4:c.92+27G>A	NP_542448.1:n.92+27G>A