Canonical Allele Identifier: CA386861964

Gene: TBX5

Linked Data

• gnomAD v4: 12-114398585-G-T
• COSMIC: COSM4969578 ; COSM4969579
• MyVariant Identifiers: chr12:g.114836390G>T (hg19) ; chr12:g.114398585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398585G>T , CM000674.2:g.114398585G>T	GRCh38
NC_000012.11:g.114836390G>T , CM000674.1:g.114836390G>T	GRCh37
NC_000012.10:g.113320773G>T	NCBI36
NG_007373.1:g.14858C>A , LRG_670:g.14858C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.498C>A MANE Select	ENSP00000384152.3:p.Asp166Glu
ENST00000310346.8:c.498C>A	ENSP00000309913.4:p.Asp166Glu
ENST00000349716.9:c.348C>A	ENSP00000337723.5:p.Asp116Glu
ENST00000405440.6:c.498C>A	ENSP00000384152.2:p.Asp166Glu
ENST00000526441.1:c.498C>A	ENSP00000433292.1:p.Asp166Glu
ENST00000552726.1:n.549C>A
NM_000192.3:c.498C>A , LRG_670t1:c.498C>A	NP_000183.2:p.Asp166Glu
NM_080717.2:c.348C>A	NP_542448.1:p.Asp116Glu
NM_181486.2:c.498C>A	NP_852259.1:p.Asp166Glu
XM_017019912.1:c.546C>A	XP_016875401.1:p.Asp182Glu
NM_080717.3:c.348C>A	NP_542448.1:p.Asp116Glu
NM_181486.4:c.498C>A MANE Select	NP_852259.1:p.Asp166Glu
NM_080717.4:c.348C>A	NP_542448.1:p.Asp116Glu