Canonical Allele Identifier: CA683909249

Gene: TBX5

Linked Data

• dbSNP Id: rs1386183456
• gnomAD v3: 12-114354392-T-A
• gnomAD v4: 12-114354392-T-A
• MyVariant Identifiers: chr12:g.114792197T>A (hg19) ; chr12:g.114354392T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114354392T>A , CM000674.2:g.114354392T>A	GRCh38
NC_000012.11:g.114792197T>A , CM000674.1:g.114792197T>A	GRCh37
NC_000012.10:g.113276580T>A	NCBI36
NG_007373.1:g.59051A>T , LRG_670:g.59051A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.*1140A>T MANE Select	ENSP00000384152.3:n.*1140A>T
ENST00000310346.8:c.*1140A>T	ENSP00000309913.4:n.*1140A>T
ENST00000349716.9:c.*1140A>T	ENSP00000337723.5:n.*1140A>T
NM_000192.3:c.*1140A>T , LRG_670t1:c.*1140A>T	NP_000183.2:n.*1140A>T
NM_080717.2:c.*1140A>T	NP_542448.1:n.*1140A>T
NM_181486.2:c.*1140A>T	NP_852259.1:n.*1140A>T
XM_017019912.1:c.*1140A>T	XP_016875401.1:n.*1140A>T
NM_080717.3:c.*1140A>T	NP_542448.1:n.*1140A>T
NM_181486.4:c.*1140A>T MANE Select	NP_852259.1:n.*1140A>T
NM_080717.4:c.*1140A>T	NP_542448.1:n.*1140A>T