Canonical Allele Identifier: CA244262270

Gene: TBX5

Linked Data

• dbSNP Id: rs1009092526
• gnomAD v3: 12-114354876-A-G
• gnomAD v4: 12-114354876-A-G
• MyVariant Identifiers: chr12:g.114792681A>G (hg19) ; chr12:g.114354876A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114354876A>G , CM000674.2:g.114354876A>G	GRCh38
NC_000012.11:g.114792681A>G , CM000674.1:g.114792681A>G	GRCh37
NC_000012.10:g.113277064A>G	NCBI36
NG_007373.1:g.58567T>C , LRG_670:g.58567T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.*656T>C MANE Select	ENSP00000384152.3:n.*656T>C
ENST00000310346.8:c.*656T>C	ENSP00000309913.4:n.*656T>C
ENST00000349716.9:c.*656T>C	ENSP00000337723.5:n.*656T>C
NM_000192.3:c.*656T>C , LRG_670t1:c.*656T>C	NP_000183.2:n.*656T>C
NM_080717.2:c.*656T>C	NP_542448.1:n.*656T>C
NM_181486.2:c.*656T>C	NP_852259.1:n.*656T>C
XM_017019912.1:c.*656T>C	XP_016875401.1:n.*656T>C
NM_080717.3:c.*656T>C	NP_542448.1:n.*656T>C
NM_181486.4:c.*656T>C MANE Select	NP_852259.1:n.*656T>C
NM_080717.4:c.*656T>C	NP_542448.1:n.*656T>C