Canonical Allele Identifier: CA6809407

Gene: TBX5

Linked Data

• ClinVar Variation Id: 477655
• ClinVar RCV Id: RCV000532471 ; RCV001114222 ; RCV000621377 ; RCV001843530
• dbSNP Id: rs143068551
• ExAC: 12:114793779 G / A
• gnomAD v2: 12-114793779-G-A
• gnomAD v3: 12-114355974-G-A
• gnomAD v4: 12-114355974-G-A
• MyVariant Identifiers: chr12:g.114793779G>A (hg19) ; chr12:g.114355974G>A (hg38)
• PubMed: PMID:25260786 ; PMID:25263169 ; PMID:26762269

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355974G>A , CM000674.2:g.114355974G>A	GRCh38
NC_000012.11:g.114793779G>A , CM000674.1:g.114793779G>A	GRCh37
NC_000012.10:g.113278162G>A	NCBI36
NG_007373.1:g.57469C>T , LRG_670:g.57469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.1115C>T MANE Select	ENSP00000384152.3:p.Ser372Leu
ENST00000310346.8:c.1115C>T	ENSP00000309913.4:p.Ser372Leu
ENST00000349716.9:c.965C>T	ENSP00000337723.5:p.Ser322Leu
ENST00000405440.6:c.1115C>T	ENSP00000384152.2:p.Ser372Leu
NM_000192.3:c.1115C>T , LRG_670t1:c.1115C>T	NP_000183.2:p.Ser372Leu
NM_080717.2:c.965C>T	NP_542448.1:p.Ser322Leu
NM_181486.2:c.1115C>T	NP_852259.1:p.Ser372Leu
XM_017019912.1:c.1163C>T	XP_016875401.1:p.Ser388Leu
NM_080717.3:c.965C>T	NP_542448.1:p.Ser322Leu
NM_181486.4:c.1115C>T MANE Select	NP_852259.1:p.Ser372Leu
NM_080717.4:c.965C>T	NP_542448.1:p.Ser322Leu