Canonical Allele Identifier: CA6809488

Gene: TBX5

Linked Data

• ClinVar Variation Id: 264163
• ClinVar RCV Id: RCV000244075 ; RCV000489388 ; RCV001083368 ; RCV001293126 ; RCV003909886
• dbSNP Id: rs115178276
• ExAC: 12:114804116 C / T
• gnomAD v2: 12-114804116-C-T
• gnomAD v3: 12-114366311-C-T
• gnomAD v4: 12-114366311-C-T
• MyVariant Identifiers: chr12:g.114804116C>T (hg19) ; chr12:g.114366311C>T (hg38)
• PubMed: PMID:17534187

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114366311C>T , CM000674.2:g.114366311C>T	GRCh38
NC_000012.11:g.114804116C>T , CM000674.1:g.114804116C>T	GRCh37
NC_000012.10:g.113288499C>T	NCBI36
NG_007373.1:g.47132G>A , LRG_670:g.47132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.836G>A MANE Select	ENSP00000384152.3:p.Arg279Gln
ENST00000310346.8:c.836G>A	ENSP00000309913.4:p.Arg279Gln
ENST00000349716.9:c.686G>A	ENSP00000337723.5:p.Arg229Gln
ENST00000405440.6:c.836G>A	ENSP00000384152.2:p.Arg279Gln
ENST00000526441.1:c.836G>A	ENSP00000433292.1:p.Arg279Gln
NM_000192.3:c.836G>A , LRG_670t1:c.836G>A	NP_000183.2:p.Arg279Gln
NM_080717.2:c.686G>A	NP_542448.1:p.Arg229Gln
NM_181486.2:c.836G>A	NP_852259.1:p.Arg279Gln
XM_017019912.1:c.884G>A	XP_016875401.1:p.Arg295Gln
NM_080717.3:c.686G>A	NP_542448.1:p.Arg229Gln
NM_181486.4:c.836G>A MANE Select	NP_852259.1:p.Arg279Gln
NM_080717.4:c.686G>A	NP_542448.1:p.Arg229Gln