Canonical Allele Identifier: CA386863445

Gene: TBX5

Linked Data

• dbSNP Id: rs1255070392
• gnomAD v2: 12-114841573-G-A
• gnomAD v4: 12-114403768-G-A
• MyVariant Identifiers: chr12:g.114841573G>A (hg19) ; chr12:g.114403768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403768G>A , CM000674.2:g.114403768G>A	GRCh38
NC_000012.11:g.114841573G>A , CM000674.1:g.114841573G>A	GRCh37
NC_000012.10:g.113325956G>A	NCBI36
NG_007373.1:g.9675C>T , LRG_670:g.9675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.131C>T MANE Select	ENSP00000384152.3:p.Ala44Val
ENST00000310346.8:c.131C>T	ENSP00000309913.4:p.Ala44Val
ENST00000349716.9:c.-3-1848C>T	ENSP00000337723.5:n.-3-1848C>T
ENST00000405440.6:c.131C>T	ENSP00000384152.2:p.Ala44Val
ENST00000526441.1:c.131C>T	ENSP00000433292.1:p.Ala44Val
ENST00000552726.1:n.182C>T
NM_000192.3:c.131C>T , LRG_670t1:c.131C>T	NP_000183.2:p.Ala44Val
NM_080717.2:c.-3-1848C>T	NP_542448.1:n.-3-1848C>T
NM_181486.2:c.131C>T	NP_852259.1:p.Ala44Val
XM_017019912.1:c.179C>T	XP_016875401.1:p.Ala60Val
NM_080717.3:c.-3-1848C>T	NP_542448.1:n.-3-1848C>T
NM_181486.4:c.131C>T MANE Select	NP_852259.1:p.Ala44Val
NM_080717.4:c.-3-1848C>T	NP_542448.1:n.-3-1848C>T