Canonical Allele Identifier: CA481920793

Gene: TBX5

Linked Data

• ClinVar Variation Id: 2176084
• ClinVar RCV Id: RCV002582209 ; RCV003294524
• dbSNP Id: rs1460343229
• gnomAD v3: 12-114401843-G-A
• gnomAD v4: 12-114401843-G-A
• MyVariant Identifiers: chr12:g.114839648G>A (hg19) ; chr12:g.114401843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401843G>A , CM000674.2:g.114401843G>A	GRCh38
NC_000012.11:g.114839648G>A , CM000674.1:g.114839648G>A	GRCh37
NC_000012.10:g.113324031G>A	NCBI36
NG_007373.1:g.11600C>T , LRG_670:g.11600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.225C>T MANE Select	ENSP00000384152.3:p.Ile75=
ENST00000310346.8:c.225C>T	ENSP00000309913.4:p.Ile75=
ENST00000349716.9:c.75C>T	ENSP00000337723.5:p.Ile25=
ENST00000405440.6:c.225C>T	ENSP00000384152.2:p.Ile75=
ENST00000526441.1:c.225C>T	ENSP00000433292.1:p.Ile75=
ENST00000552726.1:n.276C>T
NM_000192.3:c.225C>T , LRG_670t1:c.225C>T	NP_000183.2:p.Ile75=
NM_080717.2:c.75C>T	NP_542448.1:p.Ile25=
NM_181486.2:c.225C>T	NP_852259.1:p.Ile75=
XM_017019912.1:c.273C>T	XP_016875401.1:p.Ile91=
NM_080717.3:c.75C>T	NP_542448.1:p.Ile25=
NM_181486.4:c.225C>T MANE Select	NP_852259.1:p.Ile75=
NM_080717.4:c.75C>T	NP_542448.1:p.Ile25=